1p36.11CNV Type: Deletion-Duplication
Largest CNV size: 50582 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-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-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
202
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
196
1
0
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
50582
1
0
1
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
99700
1
0
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
390379
0
4
4
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
167841
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
172964
0
1
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
183050
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
19593
1
4
5
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
57788
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
69085
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
450000
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
50324
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
43776
3
4
7
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
33484
2
4
6
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
66391
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
73064
2
1
3
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
418930
2
3
5
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
9471
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
27199
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
7696
0
1
1
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)
43776
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.
24198
2
1
3
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
73064
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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)
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC05945
N/A
M
ASD
Case from SSC_phase1 cohort
26696220
26696422
203
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2162302
N/A
M
ASD
Case from MSSNG cohort
26774911
26775106
196
GRCh38
Deletion
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
25269902
25320483
50582
GRCh38
Deletion
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
25243590
25343290
99701
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3127_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24981785
25372164
390380
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3436_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23995445
24031086
35642
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4408_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27394463
27466244
71782
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6317_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26568005
26742678
174674
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261829
N/A
F
Learning disability
Postnatal microcephaly; Specific learning disability; Hypoplastic iris stroma; Low hanging columella
26696264
26864105
167842
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case656-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
25256998
25429962
172965
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004202
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
25258106
25441156
183051
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11025.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
25342960
25360705
17746
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11996.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
25342960
25360705
17746
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12274.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
25342960
25362553
19594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27100306
27109777
9472
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13717.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
24067969
24071253
3285
GRCh38
Deletion
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
25262655
25320442
57788
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
25266637
25335721
69085
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530902
M
Developmental delay and intellectual disability
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249)
26453510
26903509
450000
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case00HI1717A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU074503; NDAR ID NDAR_INVDP037EKV)
25370465
25420788
50324
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case119974L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
23901672
23904830
3159
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case128122
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
25539767
25561663
21897
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146450L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
27694038
27713787
19750
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
24928347
24941675
13329
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
27662588
27679450
16863
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case88519
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
25539767
25561663
21897
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case88519
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
26396571
26440346
43776
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
25340728
25362301
21574
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
23904526
23930442
25917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
25340728
25362301
21574
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
25340728
25362301
21574
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
27249360
27282844
33485
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
26490536
26522184
31649
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
25271785
25338175
66391
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case14
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
24778765
24851828
73064
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case15
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
25256838
25269444
12607
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case16
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
25284949
25346651
61703
GRCh38
Duplication
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-control110036022911_
N/A
N/A
Control
No previous psychiatric history
25262655
25419321
156667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
N/A
N/A
Control
No previous psychiatric history
25230674
25369344
138671
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
N/A
N/A
Control
No previous psychiatric history
26791680
27210610
418931
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902518_902518
N/A
N/A
Control
No previous psychiatric history
26336871
26400714
63844
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
N/A
N/A
Control
No previous psychiatric history
25181700
25362301
180602
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13336.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27100306
27109777
9472
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11381.s1
NA
M
Control
NA
NA
24168330
24195528
27199
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43722A
N/A
F
Control
NIMH Control (NIMH ID 71507)
26181855
26189550
7696
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
24169232
24193430
24199
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
26635343
26654988
19646
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
24679409
24703483
24075
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC05945
Not available
Paternal
ARID1A
brandler_18_ASD_replication_cases-caseAU2162302
No validation step reported
Maternal
ARID1A
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
SDHDP6,RSRP1,RHD
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
SDHDP6,TMEM50A,RSRP1,RHD
engchuan_15_ASD_discovery_cases-case3127_4
Unknown
MIR4425,SDHDP6,SYF2,TMEM50A,RSRP1,RHD,RHCE
engchuan_15_ASD_discovery_cases-case3436_3
Unknown
engchuan_15_ASD_discovery_cases-case4408_1
Unknown
WASF2,GPR3
engchuan_15_ASD_discovery_cases-case6317_5
Unknown
RN7SL679P,RNU7-29P,RPS6KA1,ARID1A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261829
De novo
Simplex
Segregated
RN7SL165P,SFN,PIGV,ZDHHC18,ARID1A
gazzellone_14_ASD_discovery_cases-case656-3
Unknown
Unknown
Unknown
SDHDP6,TMEM50A,RSRP1,RHD,RHCE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004202
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SDHDP6,TMEM50A,MACO1,RSRP1,RHD,RHCE
krumm_15_ASD_discovery_cases-case11025.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TMEM50A
krumm_15_ASD_discovery_cases-case11996.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TMEM50A
krumm_15_ASD_discovery_cases-case12274.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TMEM50A,RHCE
krumm_15_ASD_discovery_cases-case13336.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC9A1
krumm_15_ASD_discovery_cases-case13717.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MYOM3
leblond_12_ASD_discovery_cases-AUGB038_3
Paternal
Simplex
SDHDP6,RSRP1,RHD
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
SDHDP6,RSRP1,RHD
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530902
Unknown
PIGV,GPN2,GPATCH3,DHDDS,ZDHHC18,SFN,HMGN2,DPPA2P2,RNU7-29P,MIR1976,RPS6KA1,DHDDS-AS1,RN7SL165P,RN7SL679P,ARID1A,NUDC
poultney_13_ASD_discovery_cases-case00HI1717A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RHCE
prasad_12_ASD_discovery_cases-case119974L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case128122
Unknown
Unknown
Unknown
RHCE,TMEM50A
prasad_12_ASD_discovery_cases-case146450L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case88253
qPCR
Maternal
Unknown
Unknown
WASF2
prasad_12_ASD_discovery_cases-case88519
Unknown
Unknown
Unknown
RHCE,TMEM50A
prasad_12_ASD_discovery_cases-case88519
Unknown
Unknown
Unknown
CATSPER4,CEP85
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
TMEM50A,RHCE
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Segregated
MIR378F,CNR2
sanders_11_ASD_discovery_cases-11996.p1
Both parents
Simplex (trio)
NA
TMEM50A,RHCE
sanders_11_ASD_discovery_cases-12274.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM50A,RHCE
sanders_11_ASD_discovery_cases-12879.p1
Maternal
Simplex (quad-proband matched)
Not segregated
WDTC1
sanders_11_ASD_discovery_cases-12969.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DPPA2P2
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
SDHDP6,TMEM50A,RSRP1,RHD
yin_16_ASD_discovery_cases-case14
Unknown
Unknown
Unknown
CLIC4
yin_16_ASD_discovery_cases-case15
Unknown
Unknown
Unknown
RSRP1
yin_16_ASD_discovery_cases-case16
Unknown
Unknown
Unknown
SDHDP6,TMEM50A,RSRP1,RHD
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022911_
Unknown
SDHDP6,TMEM50A,RSRP1,RHD,RHCE
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
Unknown
SDHDP6,SYF2,TMEM50A,RSRP1,RHD,RHCE
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
Unknown
RN7SL165P,SFN,GPATCH3,NR0B2,RPL12P13,OSTCP2,TENT5B,CHCHD3P3,NPM1P39,PIGV,ZDHHC18,GPN2,NUDC,KDF1,TRNP1,SLC9A1
engchuan_15_ASD_discovery_controls-controlHABC_902518_902518
Unknown
ZNF683,CRYBG2
engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
Unknown
SDHDP6,SYF2,TMEM50A,RSRP1,RHD,RHCE
krumm_15_ASD_discovery_controls-control13336.s1
1M-Duov3
Paternal
SLC9A1
levy_11_ASD_discovery_controls-11381.s1
Maternal
Simplex
NA
IFNLR1
poultney_13_ASD_discovery_controls-control05C43722A
Unknown
CNKSR1
sanders_11_ASD_discovery_controls-11381.s1
Maternal
Simplex (quad)
NA
IFNLR1
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available