4p15.33CNV Type: Deletion
Largest CNV size: 340126 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
117353
5
0
5
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
441517
4
2
6
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
162130
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
177000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
6000
1
0
1
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
67024
1
0
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
98467
3
0
3
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
359784
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
340126
36
0
36
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
5363
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
301811
1
3
4
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
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)
98467
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.
242933
21
2
23
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
313482
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
engchuan_15_ASD_discovery_cases-case16054_1571173001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14136160
14203183
67024
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21038_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11569540
11623964
54425
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5428_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14136160
14203183
67024
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8461_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11666439
11698572
32134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9719_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11447654
11565007
117354
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1039302
Autism
10914208
10937654
23447
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1039303
Autism
10914208
10937654
23447
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1271304
Autism
10912306
10937654
25349
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1414305
Autism
12197192
12214476
17285
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1559301
Autism
13315956
13757472
441517
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1559302
Autism
13315956
13750341
434386
Unknown
Duplication
No
marshall_08_ASD_discovery_cases-MM0228-004
NA
M
ASD
NA
NA
12143031
12305160
162130
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case20
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
13261353
13438178
176826
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam111Proband10152
N/A
M
ASD
Additional clinical profile info N/A
ID
13541263
13547172
5910
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5428_4
NA
M
ASD
NA
NA
14136160
14203183
67024
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case168753
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11373515
11378877
5363
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case47602
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
11774264
11872730
98467
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case92173L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13749831
13807513
57683
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_123
10 yrs.
M
Intellectual disability and ADHD
ADHD, macrosomia
Intellectual disability
11868618
12228401
359784
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_141
17 yrs.
M
Intellectual disability, epilepsy, and ADHD
Epilepsy, ADHD, hypotonia, laryngomalacia, scoliosis
Intellectual disability
11877482
12228401
350920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
12173038
12211013
37976
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
13914727
13923974
9248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
14415880
14429763
13884
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
12363839
12382323
18485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11666.p1
7.7
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
11882638
12222764
340127
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12058.p1
9.3
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
13305485
13503272
197788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
11664768
11667826
3059
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
11665022
11667826
2805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12257.p1
6
M
ASD
NA
Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
14415880
14429763
13884
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
12372962
12382323
9362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
11899227
11911001
11775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
14976811
15042115
65305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12821.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
11498542
11667826
169285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
11664768
11667826
3059
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
11664768
11667826
3059
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
11373515
11378877
5363
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-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
15132972
15173412
40441
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB792009_1007845902
N/A
N/A
Control
No previous psychiatric history
12372962
12663235
290274
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900454_900454
N/A
N/A
Control
No previous psychiatric history
14023322
14159658
136337
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
N/A
N/A
Control
No previous psychiatric history
12373196
12675007
301812
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
13914727
13923974
9248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
12363839
12382323
18485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
12467582
12710515
242934
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11214.s1
17.2
F
Control (matched sibling)
NA
NA
11303486
11331686
28201
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
12363839
12382323
18485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11911.s1
12
M
Control (matched sibling)
NA
NA
12825938
12970854
144917
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12239.s1
7.4
M
Control (matched sibling)
NA
NA
12152589
12171045
18457
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12378.s1
4.4
M
Control (matched sibling)
NA
NA
12152589
12168323
15735
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12449.s1
5.3
M
Control (matched sibling)
NA
NA
12363839
12382323
18485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
11980248
11989232
8985
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12603.s1
11.7
M
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
11899227
11909536
10310
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
14976811
15029773
52963
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12821.s1
9
F
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
12152589
12153669
1081
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
12348984
12662465
313482
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
12348984
12662465
313482
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case16054_1571173001
Unknown
LINC01085
engchuan_15_ASD_discovery_cases-case21038_1
Unknown
engchuan_15_ASD_discovery_cases-case5428_4
Unknown
LINC01085
engchuan_15_ASD_discovery_cases-case8461_201
Unknown
engchuan_15_ASD_discovery_cases-case9719_201
Unknown
gai_11_ASD_discovery_cases-AU1039302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1039303
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1271304
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1414305
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1559301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1559302
Inherited
0 genes
marshall_08_ASD_discovery_cases-MM0228-004
qPCR, qmPCR
Unknown
NA
NA
LINC02270
napoli_17_ASD_discovery_cases-case20
RT-PCR
Paternal
HSP90AB2P,RAB28
nava_13_ASD_discovery_cases-Fam111Proband10152
Maternal
Simplex
Unknown
NKX3-2,LINC01096
pinto_10_ASD_discovery_cases-case5428_4
Agilent1M
paternal
NA
NA
LINC01085
prasad_12_ASD_discovery_cases-case168753
Unknown
Unknown
Unknown
prasad_12_ASD_discovery_cases-case47602
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case92173L
Unknown
Unknown
Unknown
LOC152742
quintela_17_DD/ID_discovery_cases-caseID_123
Unknown (not maternal)
Unknown
LINC02270
quintela_17_DD/ID_discovery_cases-caseID_141
Unknown
Unknown
LINC02270
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01182
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11134.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11447.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11659.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11666.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11892.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11984.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11998.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12058.p1
Unknown
Simplex (trio)
NA
HSP90AB2P,RAB28
sanders_11_ASD_discovery_cases-12071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12074.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12235.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12257.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12313.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12351.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12403.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12603.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12614.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12617.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12723.p1
Unknown
Simplex (quad-proband matched)
Segregated
CPEB2,CPEB2-DT
sanders_11_ASD_discovery_cases-12821.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13019.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
engchuan_15_ASD_discovery_controls-controlB792009_1007845902
Unknown
ECM1P2
engchuan_15_ASD_discovery_controls-controlHABC_900454_900454
Unknown
LINC01085
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
Unknown
ECM1P2
sanders_11_ASD_discovery_controls-11048.s1
Maternal
Simplex (quad)
NA
LINC01182
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
ECM1P2
sanders_11_ASD_discovery_controls-11214.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11883.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11911.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11998.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12161.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12239.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12351.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12378.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12449.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12534.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12603.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12704.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
CPEB2,CPEB2-DT
sanders_11_ASD_discovery_controls-12821.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13196.s1
Maternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
Unknown
N/A (both twins typically developing)
ECM1P2
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
Unknown
N/A (both twins typically developing)
ECM1P2
No Animal Model Data Available