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Xp22.12CNV Type: Deletion-Duplication


Largest CNV size: 390201 bp

Statistics Box:
Number of Reports: 12



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
NA
Duplication
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  NA NA
 Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
 45
 The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
 Range, 6 months-25 years
 48.89% Male
 295984
 0
 1
 1
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 238094
 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
 394797
 1
 3
 4
 higa_21_ASD/ADHD/DD/ID/EP_discovery_cases
 9-year-old male patient presenting with a maternally-inherited Xp22.12 deletion affecting the CNKSR2 gene described through an active family support group (the CNKSR2 Family Support Group)
 1
 Case was diagnosed with autism and ADHD and presented with developmental delay, intellectual disability, and diagnosis of Landau Kleffner syndrome.
 9 yrs.
 Male
 400312
 1
 0
 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
 168471
 1
 0
 1
 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
 948952
 1
 3
 4
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 35000
 1
 0
 1
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases
 Affected members of a family presenting with mild intellectual disability, ADHD, localization-related epilepsy, and other behavioral phenotypes
 4
 Intellectual disability (ID; 2 cases), epilepsy (EP; 2 cases), ADHD (2 cases), and pervasive developmental disorder (PDD; 1 case)
 Range, 4-15 yrs.
 75% Male
 584000
 0
 4
 4
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 390201
 0
 1
 1
 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
 394798
 1
 1
 2
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 187058
 1
 0
 1
 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
 5129
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 0
 0
 0
 0
 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
 667788
 1
 1
 2
 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
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  France, Belgium
 aCGH, solid phase hybridization
  Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
 
 
 None
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 higa_21_ASD/ADHD/DD/ID/EP_discovery_cases
  N/A
 N/A
  N/A
 N/A
 N/A
 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
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases
  Japan
 aCGH
  Agilent 180K
 
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  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
 
  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
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
  NA NA
 11 yrs.
 F
 Speech delay
 Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 10th %ile, OFC 10th %ile. Developmental milestones: speech delay. Visual evaluation: myopia. Family history: mother had motor delay in infancy.
 
 20162712
 20458695
  295984
 GRCh38
 Duplication
 No
  bacchelli_20_ASD_discovery_cases-caseAB148
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 
 19613435
 19851528
  238094
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14189_3130
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21372286
 21631874
  259589
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case17031_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19522930
 19917727
  394798
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19543099
 19933299
  390201
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6161_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19411501
 19581746
  170246
 GRCh38
 Duplication
 No
  higa_21_ASD/ADHD/DD/ID/EP_discovery_cases-caseFam7
 9 yrs.
 M
 ASD, ADHD, developmental delay, intellectual disability, and epilepsy/seizures
 Birth/neonatal history: small for gestational age (birth weight 2.93rd %ile). Developmental milestones: delayed ability to walk (2 years); absence of toilet training; speech delay (minimally verbal with only a few single words). Behavioral/psychiatric evaluation: sleep disturbance (very restless sleep), hyperactivity (diagnosis of ADHD), diagnosis of autism. Epilepsy/seizures: tonic-clonic seizures with onset at 8 months; diagnosis of Landau Kleffner syndrome. EEG: abnormal EEG (clusters of seizures). Brain imaging: report of abnormal brain MRI in the past. Additional medical history: feeding difficulties (feeding tube). Family history: carrier mother had no history of seizures or neurodevelopmental disorders.
 Intellectual disability
 21260278
 21660589
  400312
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case54
 5 yrs. 10 mos.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype. Karyotype: 1phqh.
 Developmental delay/intellectual disability
 19612816
 19781287
  168472
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001981
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20253700
 20351706
  98007
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002083
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19624798
 20573750
  948953
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002538
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19878110
 20395102
  516993
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005261
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19677033
 19881974
  204942
 GRCh38
 Deletion
 Yes
  lesca_12_EP_discovery_cases-caseDV95
 NA
 F
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: GTCS. Autistic features: No. ADHD features: Yes. Other features: Periventricular white-matter atrophy.
 Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 66, performance IQ 57 (at 4 years of age).
 21505555
 21540211
  34657
 GRCh38
 Deletion
 Yes
  matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10
 4 yrs.
 M
 ADHD
 Behavioral/psychiatric evaluation: presented with ADHD. Family history: mother diagnosed with depression, no history of learning disorder; sibling with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9); two maternal half-siblings with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6 and matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7).
 Borderline developmental level (Kyoto Scale of Psychological Development)
 19897277
 20480843
  583567
 GRCh38
 Duplication
 No
  matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6
 15 yrs.
 M
 ID, ADHD, and epilepsy
 Developmental milestones: started walking alone at age of 17 months and speaking few words at age of 18 months. Behavioral/psychiatric evaluation: diagnosed with ADHD according to DSM-IV; had difficulty remaining seated and concentrating on task completion during class, sometimes suffered panic attacks. Epilepsy/seizures: complex partial seizure at age of 13 years; diagnosed with localization-related epilepsy (attacks well-controlled by sodium valproate). EEG: sporadic spikes in right temporal area. Dysmorphic features: none. Family history: mother diagnosed with depression, no history of learning disorder; sibling with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7); two maternal half-siblings with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9) and ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10).
 Mild intellectual disability (ID); IQ of 63 at age of 6 years (Binet Intelligence Scales, 5th ed.)
 19897277
 20480843
  583567
 GRCh38
 Duplication
 No
  matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7
 13 yrs.
 M
 ID and epilepsy
 Epilepsy/seizures: complex partial seizure, successful treatment with valproate. EEG: right centrotemporal spikes. Family history: mother diagnosed with depression, no history of learning disorder; sibling with mild ID, ADHD, and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6); two maternal half-siblings with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9) and ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10).
 Mild intellectual disability (ID); IQ of 52 at age of 10 years (Wechsler Intelligence Scale for Children-3rd edition/WISC-III)
 19897277
 20480843
  583567
 GRCh38
 Duplication
 No
  matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9
 6 yrs.
 F
 PDD
 Behavioral/psychiatric evaluation: fulfilled DSM-IV criteria for pervasive developmental disorder (PDD); difficulty with social interaction in kindergarten and showed restricted interests. Family history: mother diagnosed with depression, no history of learning disorder; sibling with ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10); two maternal half-siblings with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6 and matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7).
 
 19897277
 20480843
  583567
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5521_3
 NA
 M
 Autism
 Nonverbal, seizure disorder, coarse facial features
 Below average IQ (<1%ile)
 19543099
 19933299
  390201
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case17031_1
 5 yrs. 8 mos.
 M
 ASD
 Autism (based on ADI-R and ADOS), language delay, verbal; physical examination at 5 y 8 mo revealed no dysmorphic features, neurological examination was normal except for a deficit in coordination and gross and fine motor development; no seizures, normal sleep EEG. Family history: mother unaffected; negative family history of neuropsychiatric disorders
 VIQ 79; Vineland: Communication 21, Daily Living Skills 47, Socialization 38, Adaptive Behavior Composite 32
 19522930
 19917727
  394798
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case9900_203
 N/A
 M
 ASD
 Autism (meets criteria on ADI-R and ADOS), language delay (first words 18 mo, first phrases 42 mo), limited language, strabismus (like his mother), normal physical exam, no dysmorphic features, no epilepsy. Family history: mother unaffected.
 Moderate ID (Bayley Scales of Infant Development II, mental developmental index 45)
 19468077
 19581746
  113670
 GRCh38
 Duplication
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_166
 12 yrs.
 F
 Developmental delay/intellectual disability
 Patient originally reported in Quintela et al., 2015a
 
 20155738
 20342795
  187058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 20030829
 20035958
  5130
 GRCh38
 Deletion
 No

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-control110036020873_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19782690
  19818075
  35386
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB939437_1007874465
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21013311
  21681099
  667789
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
 
 
 Maternal
 
 Unknown
 RN7SKP183,RPS6KA3
 
 bacchelli_20_ASD_discovery_cases-caseAB148
 qPCR
 
 Maternal
 Simplex
 
 SH3KBP1
 
 engchuan_15_ASD_discovery_cases-case14189_3130
 
 
 Unknown
 
 
 RARRES2P3,CNKSR2
 
 engchuan_15_ASD_discovery_cases-case17031_1
 
 
 Unknown
 
 
 SH3KBP1,BCLAF3
 
 engchuan_15_ASD_discovery_cases-case5521_3
 
 
 Unknown
 
 
 SH3KBP1,BCLAF3
 
 engchuan_15_ASD_discovery_cases-case6161_3
 
 
 Unknown
 
 
 EIF5P2,MAP3K15,SH3KBP1
 
 higa_21_ASD/ADHD/DD/ID/EP_discovery_cases-caseFam7
 
 
 Maternal
 
 
 KLHL34,RARRES2P3,CNKSR2
 
 iourov_12_ASD/ID/EP_discovery_cases-case54
 
 
 Unknown
 Unknown
 Unknown
 SH3KBP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001981
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS6KA3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002083
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,SH3KBP1,MAP7D2,RPS6KA3,BCLAF3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002538
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR23C,EIF1AX-AS1,EIF1AX,SH3KBP1,MAP7D2,RPS6KA3,BCLAF3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005261
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SH3KBP1
 
 lesca_12_EP_discovery_cases-caseDV95
 qPCR
 
 Unknown
 Unknown
 Unknown
 CNKSR2
 
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10
 
 Possibly maternal (mother with depression, but no history of learning disabilities)
 Maternal
 Multiplex
 Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
 MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
 Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6
 
 Possibly maternal (mother with depression, but no history of learning disabilities)
 Maternal
 Multiplex
 Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
 MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
 Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7
 
 Possibly maternal (mother with depression, but no history of learning disabilities)
 Maternal
 Multiplex
 Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
 MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
 Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
 matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9
 
 Possibly maternal (mother with depression, but no history of learning disabilities)
 Maternal
 Multiplex
 Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
 MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
 
 pinto_10_ASD_discovery_cases-case5521_3
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 SH3KBP1,BCLAF3
 
 pinto_14_ASD_discovery_cases2-case17031_1
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 (not tested)
 SH3KBP1,BCLAF3
 
 pinto_14_ASD_discovery_cases2-case9900_203
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 (not tested)
 EIF5P2,MAP3K15,SH3KBP1
 
 quintela_17_DD/ID_discovery_cases-caseID_166
 
 
 Unknown (not maternal)
 
 Unknown
 RPS6KA3
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MAP7D2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020873_
 
 
  Unknown
 
 
  SH3KBP1
 
engchuan_15_ASD_discovery_controls-controlB939437_1007874465
 
 
  Unknown
 
 
  RNU6-133P,RARRES2P3,KLHL34,CNKSR2
 

No Animal Model Data Available
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