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Xp11.22CNV Type: Deletion-Duplication


Largest CNV size: 89961 bp

Statistics Box:
Number of Reports: 24



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Autism-associated familial microdeletion of Xp11.22.
Deletion
Phenomic determinants of genomic variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
NA
Deletion
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
NA
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
NA
Duplication
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 65743
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 1715
 0
 1
 1
 de_wolf_14_ASD/ID_discovery_cases
 First child of healthy, unrelated parents with no family history of autism who presented with syndromic autism
 1
 Case diagnosed with ASD at age of 18 years (diagnostic tools N/A); case also presented with intellectual disability (ID) and Aarskog syndrome
 20 yrs.
 Male
 254000
 2
 0
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 177000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 299929
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 231855
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 132805
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 4335995
 2
 4
 6
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 84862
 1
 1
 2
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 49812
 0
 3
 3
 lopergolo_21_ASD/DD/ID/EP_discovery_cases
 Individuals with IQSEC2 variants (including five novel patients with CNVs) recruited in five different centers (Italy, Spain, Belgium, Switzerland and Nicaragua) due to a collaborative research call of the European Reference Network Ithaca (Intellectual disability, TeleHealth, And Congenital Anomalies).
 21
 Patients frequently presented with intellectual disability and epilepsy, with a diagnosis of autism spectrum disorder reported in a majority of patients.
 Range, 20 mos.-46 yrs.
 42.86% Male
 442025
 1
 4
 5
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 557000
 0
 1
 1
 moey_15_ASD/DD/ID/EP_discovery_cases
 Four novel male cases with Xp11.22 microduplications incluidng the genes TSPYL2, KDM5C, and IQSEC2; all four patients are located in DECIPHER
 4
 Cases presented with developmental delay/intellectual disability (DD/ID), delayed speech development, behavioral problems (ASD in one case), and epilepsy/seizures (1 case)
 Range, 4-14 yrs.
 Male
 1441000
 0
 4
 4
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 1213000
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 10852
 0
 1
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 10100
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 168076
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 170685
 0
 2
 2
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 72641
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 9370
 1
 1
 2
 qiao_08_ASD_discovery_cases
 Affected brothers born to phenotypically normal, non-consanguineous parents with no family history of ASD; family from Autism Spectrum Disorders-Canadian American Research Consortium (ASD-CARC)
 2
 ASD. Diagnosis made using ADI-R and/or ADOS
 Range, 10-12 yrs.
 100% Male
 470000
 2
 0
 2
 qiao_08_ASD_replication_cases
 ASD cases recruited by ASD-CARC or AGRE
 400
 ASD. Diagnosis made using ADI-R and/or ADOS
 NA
 79.75% Male
 470000
 0
 0
 0
 qiao_09_ASD_discovery_cases
 Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
 100
 ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
 Range, 2-40 yrs.
 76% Male
 500000
 2
 0
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 89961
 3
 1
 4
 tran_mau-them_13_ID_discovery_cases
 Male patients with severe X-linked intellectual disability and truncating duplications in IQSEC2
 2
 Severe intellectual disability, seizures, autistic features, midline stereotypies, and strabismus
 Range, 4-28 yrs.
 Male
 42000
 0
 2
 2
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 23780
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 171501
 0
 3
 3
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 9370
 0
 0
 0
 qiao_08_ASD_discovery_controls
 Control group of 282 X chromosomes from anonymous blood samples
 186
 Control
 NA
 48.39% Male
 470000
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 28108
 6
 0
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 de_wolf_14_ASD/ID_discovery_cases
 
 aCGH
  Agilent 244K
 
 
 qPCR, FISH
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lopergolo_21_ASD/DD/ID/EP_discovery_cases
  Predominantly European
 aCGH
  Agilent 60K
 
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 moey_15_ASD/DD/ID/EP_discovery_cases
  N/A
 aCGH, array SNP
  Affymetrix CytoScan HD, Agilent 4x180K
 
 
 FISH
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 MLPA, MAQ
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 MLPA, MAQ
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 qiao_08_ASD_discovery_cases
  Caucasian
 aCGH, qPCR
  1-Mb BACs aCGH
 
 SpectralWare V2 (Spectral Genomics)
 qPCR; FISH
 qiao_08_ASD_replication_cases
  NA
 qPCR
 
 
 
 
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 FISH; qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 tran_mau-them_13_ID_discovery_cases
  European
 aCGH
  Agilent SurePrint G3 180K
 
 Cytogenomics 2.0 or DNA Analytics v4.0.85
 qPCR, FISH, aCGH (Agilent SurePrint G3 1M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  qiao_08_ASD_discovery_controls
  NA
  qPCR
 
 
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  annunziata_21_ASD_discovery_cases-caseIB355
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (not tested with ADOS). Birth/neonatal history: suspected placental abruption at 12 weeks gestation (treated with maternal rest); delivery at term by emergency caesarean section due to fetal distress. EEG: ESES pattern. Brain imaging: thin corpus callosum (hypoplastic rostrum), minimal widening of the perivascular spaces. Additional medical history: multiple congenital malformations. Dysmorphic features: peculiar facial characteristics. Growht parameters: height 3rd %ile, weight <3rd %ile, head circumference 3rd %ile. Family history: negative.
 Total IQ/GQ 40
 53530002
 53595744
  65743
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11461
 NA
 M
 ASD
 NA
 NA
 53279596
 53281311
  1716
 GRCh38
 Duplication
 No
  de_wolf_14_ASD/ID_discovery_cases-case1
 20 yrs.
 M
 ASD, ID, and Aarskog syndrome
 Case diagnosed with ASD at age of 18 years based on presence of deficits in the three core domains of autism (diagnostic tools N/A). Birth/neonatal history: born at term; birth weight of 2.5 kg, length of 49 cm, OFC of 35 cm; diagnosed with cleft palate, hypotonia, and developmental delay. Dysmorphic features: features reminiscent of Aarskog syndrome; swan-neck deformity of the fingers, widely spaced eyes, ptosis of the eyelids, anteversion of the nostrils, shawl scrotum, bilateral patellar subluxation. Growth parameters: weight of 62.8 kg (-1 SD), height of 171.2 cm (-1.4 SD), and OFC of 54.3 cm (-1.3 SD) at age of 20 years. Family history: first child of healthy, unrelated parents; unaffected sister; family history negative for autism.
 Intellectual disability; full scale IQ of 65, performance IQ of 72, and verbal IQ of 65 measured ar age of 18 years.
 54457025
 54480481
  23457
 GRCh38
 Deletion
 Yes
  de_wolf_14_ASD/ID_discovery_cases-case1
 20 yrs.
 M
 ASD, ID, and Aarskog syndrome
 Case diagnosed with ASD at age of 18 years based on presence of deficits in the three core domains of autism (diagnostic tools N/A). Birth/neonatal history: born at term; birth weight of 2.5 kg, length of 49 cm, OFC of 35 cm; diagnosed with cleft palate, hypotonia, and developmental delay. Dysmorphic features: features reminiscent of Aarskog syndrome; swan-neck deformity of the fingers, widely spaced eyes, ptosis of the eyelids, anteversion of the nostrils, shawl scrotum, bilateral patellar subluxation. Growth parameters: weight of 62.8 kg (-1 SD), height of 171.2 cm (-1.4 SD), and OFC of 54.3 cm (-1.3 SD) at age of 20 years. Family history: first child of healthy, unrelated parents; family history negative for autism.
 Intellectual disability; full scale IQ of 65, performance IQ of 72, and verbal IQ of 65 measured ar age of 18 years.
 53878111
 54132879
  254769
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300767
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 53700752
 53878140
  177389
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18087_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52761526
 53061354
  299829
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263219
 N/A
 M
 Developmental delay
 Delayed speech and language development; Abnormal facial shape; Microcephaly; Intrauterine growth retardation; Global developmental delay; Clinodactyly of the 5th finger; Persistence of primary teeth; Nasal speech; Brachydactyly syndrome
 
 53422383
 53654244
  231862
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case49
 4 yrs. 10 mos.
 F
 Developmental delay/intellectual disability
 Facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis. Karyotype: 9phqh, 17ps.
 Developmental delay/intellectual disability
 53420535
 53553329
  132795
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case50
 4 yrs.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype
 Developmental delay/intellectual disability
 53420535
 53553328
  132794
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001783
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50916108
 53902080
  2985973
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002039
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53374742
 53543761
  169020
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53511777
 53575140
  63364
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005003
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50086006
 54030240
  3944235
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005096
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53403791
 54030240
  626450
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005305
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53375808
 53415949
  40142
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11129.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 50910783
 50916607
  5825
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12378.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 50106241
 50191117
  84877
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case29
 7 yrs.
 F
 Developmental delay
 History of developmental delay, polydactyly
 
 53195841
 53211511
  15671
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case37
 13 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 53401148
 53450931
  49784
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case38
 20 yrs.
 F
 Developmental delay
 History of developmental delay, convulsion
 
 53401148
 53450934
  49787
 GRCh38
 Duplication
 No
  lopergolo_21_ASD/DD/ID/EP_discovery_cases-case17
 7 yrs.
 M
 ASD, developmental delay, intellectual disability, and epilepsy/seizures
 Developmental milestones: delayed ability to sit (30 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: inability to walk, hypotonia, stereotypies, absent use of hands. Behavioral/psychiatric evaluation: ASD, restlessness. Epilepsy/seizures: generalized tonic-clonic seizures (onset at 5 years). Brain imaging: periventricular and frontal delayed myelination. Additional medical history: constipation, lactose intolerance. Growth parameters: increased body weight (>99th %ile, +3.69 SD).
 Severe-profound intellectual disability
 53241773
 53267074
  25302
 GRCh38
 Duplication
 
  lopergolo_21_ASD/DD/ID/EP_discovery_cases-case18
 19 yrs.
 F
 ASD, developmental delay, intellectual disability, and epilepsy/seizures
 Birth/neonatal history: delivery by caesarean section, small for gestational age (8th %ile). Developmental milestones: delayed ability to sit (14 months), delayed ability to walk (2 years), speech delay (babble speech at 1 years, never acquired language with phrases), developmental regression (regression of use of hands at 2 years). Behavioral/psychiatric evaluation: ASD, behavioral disturbances, teeth grinding, washing stereotypy (hands to face since 17 months of age). Epilepsy/seizures: generalied seizures (onset at 9 years). EEG: abnormal (generalized discharges activated in sleep, slow background). Additional medical history: small and cold feet.
 Moderate intellectual disability
 52925331
 53367355
  442025
 GRCh38
 Deletion
 
  lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p19
 14 yrs.
 M
 Developmental delay, intellectual disability, epilepsy/seizures, and autistic features
 Developmental milestones: developmental delay, delayed ability to sit (21 months), delayed ability to walk (24 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia, gait ataxia, problems in walking, problems with maintaining balance, repetitive hand movements. Behavioral/psychiatric evaluation: autistic behavior, auto/hetero-aggressive behavior. Epilepsy/seizures: tonic-clonic seizures (onset at 9 years), epileptic activity in the left frontal lobe. Family history: two similarly affected family members.
 Severe intellectual disability
 53271255
 53312670
  41416
 GRCh38
 Duplication
 
  lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p20
 19 yrs.
 F
 Developmental delay, intellectual disability, and autistic features
 Birth/neonatal history: large for gestational age (birth weight 97th %ile). Developmental milestones: speech delay (first words at 2 years, phrases at 3.5 years). Motor and musculoskeletal evaluation: clumsiness, poor motor coordination. Behavioral/psychiatric evaluation: autistic behavior.
 Moderate intellectual disability
 53271255
 53312670
  41416
 GRCh38
 Duplication
 
  lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p21
 45 yrs.
 F
 Intellectual disability and autistic features
 Motor and musculoskeletal evaluation: clumsiness, poor motor coordination. Behavioral/psychiatric evaluation: autistic behavior. Family history: two similarly affected offspring (one male, one female).
 Moderate intellectual disability
 53271255
 53312670
  41416
 GRCh38
 Duplication
 
  maini_18_ASD/DD/ID_discovery_cases-case127
  NA NA
 7 yrs.
 F
 Intellectual disability
 Birth history: born at 40 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: congenital heart defects. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Mild intellectual disability
 50596390
 51153833
  557444
 GRCh38
 Duplication
 No
  moey_15_ASD/DD/ID/EP_discovery_cases-patient1
 4 yrs.
 M
 Speech delay
 Patient in DECIPHER database (DECIPHER ID 306072). Birth/neonatal history: born at term after uncomplicated gestation; birth weight of 3150 g (25th-50th %ile). Developmental milestones: delayed speech development (no words until approximately 3 years of age). Language and communication evaluation: slow progression of language, only 4-5 words by age of 4 years. Behavioral/psychiatric evaluation: poor socialization with recent improvement. Dysmorphic features: downward corners of the mouth. Growth parameters: weight of 23 kg (>95th %ile), height of 108 cm (90th %ile), and head circumference of 50.4 cm (between average and -2 SD). Family history: both parents were healthy and cognitively normal.
 
 52925332
 53286360
  361029
 GRCh38
 Duplication
 No
  moey_15_ASD/DD/ID/EP_discovery_cases-patient2
 14 yrs.
 M
 ASD and ID
 Patient in DECIPHER database (DECIPHER ID 27212). Birth/neonatal history: pregnancy complicated by hypertension, labor was induced at 39 weeks of gestation due to preeclampsia; delivered by forceps delivery for fetal distress; birth weight of 3014 g (25th-50th %ile) and head circumference of 35 cm (50th-75th %ile); neonatal jaundice persisting for 10.5 weeks; poor feeder, slow to gain weight; unhappy baby who screamed a lot and did not like being touched. Developmental milestones: sat later; first walked at normal time. Motor and musculoskeleta evaluation: clumsy, diagnosed with dyspraxia at age of 8 years. Behavioral/psychiatric evaluation: required assistance with daily living activities and reported to have poor social skills at age of 19 years; avoided eye contact; challenging behavior with physical aggression when frustrated and had obsessions about articular items, which he collected. Dysmorphic features: none. Family history: history of mild-to-moderate learning difficulties and autistic traits in three maternal male cousins, two of whom also have microduplication (the third maternal male cousin that lacks this microduplication is clinically less severe and more academically able); the patient's mother and her two sisters are normal with no ID or behavioral problems.
 Mild-moderate ID; learning difficulties, transferred to special school at age of 11 years.
 52882267
 53285828
  403562
 GRCh38
 Duplication
 Yes
  moey_15_ASD/DD/ID/EP_discovery_cases-patient3
 5 yrs. 8 mos.
 M
 Developmental delay and behavioral problems
 Patient in DECIPHER database (DECIPHER ID 308362). Birth/neonatal history: born at term following normal pregnancy. Developmental milestones: absence of crawling at 1 year of age, independent walking at 2 years of age; delayed speech development (no words until approximately 3 years of age). Language and communication evaluation: speaks fluently in conversational speech, but had significant ongoing issue with pronunciation, at age of 5 years 8 months. Behavioral/psychiatric evaluation: significant behavioral problems requiring assistance in a special education class. Growth parameters: height of 102.5 cm (5th %ile), weight of 16.3 kg (10th %ile), and head circumference of 50.5 cm (40th %ile). Family history: both parents were healthy.
 Global developmental delay
 52760162
 53339721
  579560
 GRCh38
 Duplication
 No
  moey_15_ASD/DD/ID/EP_discovery_cases-patient4
 9 yrs.
 M
 ID and epilepsy
 Patient in DECIPHER database (DECIPHER ID 24942). Birth/neonatal history: born at 38 weeks gestation following period of intrauterine growth retardation (IUGR) and oligohydramnios detected by ultrasound at 35 weeks; birth weight of 2550 g (3rd %ile), length of 46 cm (3rd-10th %ile), and head circumference of 31 cm (1 cm smaller than 3rd %ile). Developmental milestones: developmental delay first noted at 6 months, review at age of 9 years revealed severe developmental delay (patient could sit and shuffle on his bottom but was non-ambulant, was able to smile and shake hards but has no words and little receptive language). Motor and musculoskeletal evaluation: hypotonia; hands and feet measure on 3rd %ile. Epilepsy/seizures: myoclonic seizures with no recognizable electroclinical syndrome; seizures commenced at age of 5 years and vary from several seizures per day to a seizure per month, most seizures occur shortly after falling asleep, sodium valproate improved seizure control; at age of 9 years, seizures occurred with a frequency of approximately one per month. Additional medical history: the patient had a fundoplication with percutaneous entrogastrostomy tube due to gastroesophageal reflux. Dysmorphic features: finely arched eyebrows, short nose, down-turned corners of the mouth; hypogonadism (small penis with undescended testes). Growth parameters: microcephaly; weight of 25 kg (25th %ile), height of 120 cm (3rd %ile), and head circumference of 48 cm (1.5 cm smaller than 2nd %ile). Family history: N/A.
 Severe ID
 52523686
 53756398
  1232713
 GRCh38
 Duplication
 No
  monteiro_19_ASD_discovery_cases_case20
  NA NA
 15 yrs.
 M
 ASD and intellectual disability
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: present.
 Intellectual disability
 53432231
 54645872
  1213642
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-214-1
 
 
 ASD
 
 
 51278373
 51289224
  10852
 Unknown
 Duplication
 No
  oikonomakis_16_ASD_discovery_cases-case562
 4 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: absent speech
 
 53422499
 53432567
  10069
 GRCh38
 Duplication
 No
  pfundt_16_NDD_discovery_cases-case47
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: Xp11.22-linked intellectual disability in male patint
 
 53432246
 53600310
  168065
 GRCh38
 Duplication
 Yes
  pfundt_16_nonNDD_discovery_cases-case51
 N/A
 N/A
 Non-NDD
 Disease cohort: muscle disorder. Description: Xp11.22-linked intellectual disability in male patint
 
 53431987
 53602659
  170673
 GRCh38
 Duplication
 Yes
  pfundt_16_nonNDD_discovery_cases-case62
 N/A
 N/A
 Non-NDD
 Disease cohort: cancer. Description: Xp11.22-linked intellectual disability in male patient
 
 53431987
 53602659
  170673
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case17018_1
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 53524572
 53597217
  72646
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case111521L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 54561865
 54570703
  8839
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case46736
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52861793
 52871162
  9370
 Unknown
 Duplication
 No
  qiao_08_ASD_discovery_cases-subject1
 10 yrs.
 M
 ASD
 Autistic behavior: ADOS/ADI-R, CARS and DSM-IV confirmed ASD with delayed receptive and expressive language skills, impulsivity, hyperactivity, inattentiveness and stereotypical behaviors. Dysmorphic features: hypertelorism; right-sided facial asymmetry; coarse facies; prominent supraorbital ridges; broad nasal root, bridge and notched tip; low-set large ears with thick helices; micro-retrognathia; unilateral cleft lip/palate; long, thin fingers and broad halluces. CNS findings: normal EEG, brain CT and MRI; high pain threshold, mild to moderate conductive hearing loss. Growth parameters: height, 90th %ile; weight, 50th %ile; OFC, 35th %ile. Family history: no family history of ASD.
 Moderate intellectual disability (ID)
 53977546
 54449546
  472001
 GRCh38
 Deletion
 Yes
  qiao_08_ASD_discovery_cases-subject2
 12 yrs.
 M
 ASD
 Autistic behavior: ADOS/ADI-R, CARS and DSM-IV confirmed ASD with delayed receptive and expressive language skills, impulsivity, hyperactivity, inattentiveness and stereotypical behaviors. Dysmorphic features: Hypertelorism; right-sided facial asymmetry; coarse facies; prominent supraorbital ridges; long sloping forehead; broad nasal root, bridge and notched tip; low-set large ears with thick helices; tongue-tie and unilateral lip/palate with bifid uvula; long, thin fingers and broad hallcues. CNS findings: normal EEG, brain CT and MRI; high pain threshold, conductive and sensorineural hearing loss. Growth parameters: height, 60th %ile; weight, 50th %ile; OFC, 5th %ile. Family history: no family history of ASD.
 Moderate intellectual disability (ID)
 53977546
 54449546
  472001
 GRCh38
 Deletion
 No
  qiao_09_ASD_discovery_cases-case8
 Range, 11-15
 M
 Autism
 Phenotype Score: 5. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Seizures: none. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree co-relationship).
 Moderate intellectual disability (IQ between 35 & 50)
 53970960
 54326640
  500000
 Unknown
 Deletion
 Yes
  qiao_09_ASD_discovery_cases-case9
 Range, 11-15
 M
 Autism
 Phenotype Score: 5. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Seizures: none. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree relationship).
 Moderate intellectual disability (IQ between 35 & 50)
 53970960
 54326640
  500000
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 50910775
 50947620
  36846
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 52597280
 52687241
  89962
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12744.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
 53845117
 53887040
  41924
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 51991268
 52019071
  27804
 GRCh38
 Deletion
 No
  tran_mau-them_13_ID_discovery_cases-patient1
 4 yrs.
 M
 Intellectual disability and autistic features
 Birth/neonatal history: uneventful pregnancy; bron at 37.5 weeks gestation full term by C-section due to abnormal presentation; birth measurements in normal range (OFC +1 SD, birth weight mean, birth length +1 SD); postnatal course marked by psychomotor retardation with neonatal hypotonia, hyperkinesia, strabismus, and non-inherited progressive neonatal microcephaly with OFC -2 SD at 6 months of age. Developmental milestones: sitting at 12 months, did not vocalize at 15 months. Language and communication evaluation: no language acquistion. Motor and musculoskeletal evaluation: unable to walk alone, no purposeful hand skills. Behavioral/psychiatric evaluation: stereotypic hand movements (hand washing/rubbing automatisms); additional behavioral disturbances such as self-injury and unexplained crying episodes. Epilepsy/seizures: epilepsy with generalized myoclonic seizures started at age of 4 years. Brain imaging: normal brain MRI with spectroscopy. Ocular evaluation: hypermetropia leading to strabismus. Dysmorphic features: normal facial features. Growth parameters: OFC -2.5 SD, weight +2 SD, length +1 SD. Family history: only child born to healthy unrelated parents native to the south of France.
 Severe ID
 53254331
 53296102
  41772
 GRCh38
 Duplication
 Yes
  tran_mau-them_13_ID_discovery_cases-patient3
 28 yrs.
 M
 Intellectual disability and autistic features
 Birth/neonatal history: uneventful pregnancy; born at term by breech presentation; normal birth weight; neonatal hypotonia. Developmental milestones: langauge partially acquired, but delayed; able to walk alone at age of 2.5 years; developmental regression sometime after 3 years of age. Language and communication evaluation: language regression between ages of 3 and 28 years. Motor and musculoskeletal evaluation: motor skill regression between ages of 3 and 28 years. Behavioral/psychiatric evaluation: midline stereotypic hand movements at 3 years of age; behavioral disturbances including self injury. Epilepsy/seizures: partial epilepsy at 3 years of age. Brain imaging: cerebral atrophy, with nonspecific hypersignal foci in periventricular white matter. Dysmorphic features: minor facial features (high forehead, short philtrum, full lips). Growth parameters: measurements within normal range (OFC -0.5 SD, weight +2 SD, length +1 SD). Family history: first child born to healthy unrelated parents.
 Severe ID
 53246848
 53269290
  22443
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1693-003
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 53393823
 53417572
  23750
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB566219_1007852909
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53763295
  53902165
  138871
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52792229
  52861425
  69197
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51997640
  52169141
  171502
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  50525200
  50553308
  28109
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  54345901
  54350119
  4219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12536.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  51997640
  52019071
  21432
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12817.s1
  15.7
  F
  Control (matched sibling)
  NA
  NA
  52975184
  52995775
  20592
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  51997640
  52019071
  21432
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  51997640
  52019071
  21432
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB355
 qPCR, FISH
 
 Maternal
 Simplex
 
 MIRLET7F2,MIR98,HUWE1
 
 celestino-soper_11_ASD_discovery_cases-11461
 
 
 Unknown
 Simplex
 NA
 IQSEC2
 
 de_wolf_14_ASD/ID_discovery_cases-case1
 qPCR
 
 Maternal
 Simplex
 
 FGD1
 
 de_wolf_14_ASD/ID_discovery_cases-case1
 qPCR
 
 Maternal
 Simplex
 
 RNA5SP505,PHF8,FAM120C
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300767
 
 
 Maternal
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18087_302
 
 
 Unknown
 
 
 SPANXN5,XAGE5,EIF4A2P4,XAGE3,SSX2B,FAM156B,GPR173,FAM156A
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263219
 
 Maternal
 Maternal
 Multi-generational
 Possibly segregated
 HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,SMC1A,RIBC1,HUWE1
 
 iourov_12_ASD/ID/EP_discovery_cases-case49
 
 
 Unknown
 Unknown
 Unknown
 HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001783
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002039
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6857,HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR98,MIRLET7F2,HUWE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005003
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,CCNB3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005096
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,SMC1A,RIBC1,HUWE1,PHF8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005305
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR6857,SMC1A
 
 krumm_15_ASD_discovery_cases-case11129.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 BMP15
 
 krumm_15_ASD_discovery_cases-case12378.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PYY3,AKAP4
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case29
 
 
 Unknown
 
 
 MIR6894,KDM5C
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case37
 
 
 Unknown
 
 
 MIR6857,HSD17B10,SMC1A,RIBC1
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case38
 
 
 Unknown
 
 
 MIR6857,HSD17B10,SMC1A,RIBC1
 
 lopergolo_21_ASD/DD/ID/EP_discovery_cases-case17
 
 
 De novo
 
 
 IQSEC2
 
 lopergolo_21_ASD/DD/ID/EP_discovery_cases-case18
 
 
 De novo
 
 
 ACTG1P10,FAM156A,GPR173,TSPYL2,RPSAP62,KDM5C-IT1,MPV17L2P1,KANTR,MIR6895,MIR6894,KDM5C,IQSEC2
 
 lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p19
 
 Maternal
 Maternal
 Multiplex
 Segregated
 IQSEC2
 
 lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p20
 
 Maternal
 Maternal
 Multiplex
 Segregated
 IQSEC2
 
 lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p21
 
 
 Maternal
 Multiplex
 Segregated
 IQSEC2
 
 maini_18_ASD/DD/ID_discovery_cases-case127
 
 
 Paternal
 Not simplex
 Unknown
 RNU6-935P,H3F3AP5,BMP15,HMGB1P15,SHROOM4,LINC01284
 
 moey_15_ASD/DD/ID/EP_discovery_cases-patient1
 
 
 Maternal
 Possibly simplex
 Unknown (possible X-linked segregation)
 ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
 
 moey_15_ASD/DD/ID/EP_discovery_cases-patient2
 FISH
 
 Maternal
 Extended multiplex
 Incomplete X-linked segregation
 ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,FAM156B,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
 
 moey_15_ASD/DD/ID/EP_discovery_cases-patient3
 
 
 Maternal
 Possibly simplex
 Unknown (possible X-linked segregation)
 SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
 Mildly increased KDM5C expression in patient-dervied LCLs compared to male control
 moey_15_ASD/DD/ID/EP_discovery_cases-patient4
 
 
 De novo
 Unknown
 Possibly segregated
 SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,FAM156A,TSPYL2,KDM5C,HUWE1
 Increased expression of TSPYL2, KDM5C, and SMC1A in patient-derived LCLs compared to male control
 monteiro_19_ASD_discovery_cases_case20
 
 
 Unknown
 
 
 HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,TSR2,FGD1,GNL3L,HUWE1,PHF8,FAM120C,WNK3
 
 nord_11_ASD_discovery_cases-214-1
 
 
 Maternal
 
 
 0 genes
 
 oikonomakis_16_ASD_discovery_cases-case562
 
 
 De novo
 
 
 HSD17B10,SMC1A,RIBC1
 
 pfundt_16_NDD_discovery_cases-case47
 MLPA or MAQ
 
 
 
 
 HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
 
 pfundt_16_nonNDD_discovery_cases-case51
 MLPA or MAQ
 
 
 
 
 HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
 
 pfundt_16_nonNDD_discovery_cases-case62
 
 
 
 
 
 HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
 
 pinto_14_ASD_discovery_cases2-case17018_1
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 (no siblings)
 MIR98,MIRLET7F2,HUWE1
 
 prasad_12_ASD_discovery_cases-case111521L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case46736
 
 
 Unknown
 Unknown
 Unknown
 XAGE5
 
 qiao_08_ASD_discovery_cases-subject1
 qPCR; FISH
 
 Maternal
 Multiplex
 Partially segregated (deletion segregated with disease in males; two unaffected sisters carry same Xp11.22 deletion)
 RPL7AP71,RNU6-434P,TSR2,FGD1,PHF8,FAM120C,WNK3
 
 qiao_08_ASD_discovery_cases-subject2
 
 
 Maternal
 Multiplex
 Partially segregated (deletion segregated with disease in males; two unaffected sisters carry same Xp11.22 deletion)
 RPL7AP71,RNU6-434P,TSR2,FGD1,PHF8,FAM120C,WNK3
 
 qiao_09_ASD_discovery_cases-case8
 FISH; qPCR
 
 Maternal
 Multiplex
 Possibly segregated
 PHF8,FAM120C,WNK3
 
 qiao_09_ASD_discovery_cases-case9
 FISH; qPCR
 
 Maternal
 Multiplex
 Possibly segregated
 PHF8,FAM120C,WNK3
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Both parents
 Simplex (trio)
 NA
 BMP15,HMGB1P15
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SSXP4,SSX7,RNA5SP504,SSXP1,SSX8P,SSXP5
 
 sanders_11_ASD_discovery_cases-12744.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 tran_mau-them_13_ID_discovery_cases-patient1
 qPCR, FISH
 
 De novo
 Simplex
 Likely segregated
 IQSEC2
 
 tran_mau-them_13_ID_discovery_cases-patient3
 aCGH (Agilent SurePrint G3 1M)
 
 De novo
 Possibly simplex
 Likely segregated
 IQSEC2
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1693-003
 RT-qPCR or WGS
 
 De novo
 
 
 MIR6857,SMC1A
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
 
 
  Unknown
 
 
  SPANXN5,XAGE5,EIF4A2P4
 
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
 
 
  Unknown
 
 
  SNORA11E,MAGED4B
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Paternal
  Simplex (quad)
  NA
  WNK3
 
sanders_11_ASD_discovery_controls-12536.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12817.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAM156A
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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