6q16.3CNV Type: Deletion-Duplication
Largest CNV size: 312000 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
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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
1060
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
24086
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
38697
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
61782
2
0
2
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
130000
1
1
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
364000
0
2
2
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1719396
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
648240
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
800000
0
1
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
24086
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
57944
2
3
5
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
239153
4
2
6
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
712774
0
1
1
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
312000
1
0
1
strunk_16_ASD/ID_discovery_cases
Second of three children of healthy, non-consanguineous Caucasian parents with unremarkable family history presenting with two de novo microdeletions in 6q16
1
Case diagnosed with infantile autism (ADOS) and severe intellectual disability at age of 6.5 years
19 yrs.
Male
760000
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
24086
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_16_ASD_discovery_controls
Healthy siblings of ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios
26
Control
N/A
N/A
4476
1
0
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
4478
1
0
1
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
365027
4
1
5
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
130000
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1719396
0
0
0
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
366221
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)
57944
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.
364442
5
2
7
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
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
strunk_16_ASD/ID_discovery_cases
Caucasian
aCGH
NimbleGen WG HG18 Tiling 385K CGHv.2.0
FISH
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_16_ASD_discovery_controls
N/A
WGS
Illumina HiSeq
Lumpy, ForestSV
SVtyper, gtCNV
Solid phase hybridization (Illumina 2.5M)
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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-caseREACH000443
N/A
M
ASD
Case from REACH cohort
100985928
100986988
1061
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)
103290089
103314174
24086
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8465_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101775345
101814042
38698
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU006604
Autism
100628370
100690151
61782
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU006605
Autism
100627652
100681993
54342
Unknown
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case2047
NA
NA
Developmental delay
NA
NA
100365403
100495403
130001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2048
NA
NA
Developmental delay
NA
NA
100365403
100495403
130001
GRCh38
Duplication
NA
girirajan_13a_ASD_discovery_cases-11756.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99835403
100195403
360001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13988.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99835403
100195403
360001
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case17182
NA
NA
ASD/autism
NA
NA
100705789
102425214
1719426
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000385
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102026630
102674870
648241
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1574303
N/A
F
ASD
103716125
104486125
770001
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
103290101
103314186
24086
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case114961L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
102425239
102437397
12159
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case162340L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
101960949
102005840
44892
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case54259
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
101287580
101318898
31319
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case65524
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
103810411
103868354
57944
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case70721
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
103810411
103868354
57944
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11318.p1
8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 113; verbal IQ, 116
100624431
100637070
12640
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
103886804
103955950
69147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
102223016
102263084
40069
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
100086386
100114484
28099
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
103138847
103378000
239154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12380.p1
14.7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 80
100733255
100761136
27882
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT35
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD. Case also presented with hyperactivity.
101421718
102134491
712774
GRCh38
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-042
NA
M
ASD
NA
NA
101257918
101570080
312163
GRCh38
Deletion
No
strunk_16_ASD/ID_discovery_cases-case1
19 yrs.
M
ASD and intellectual disability
Case diagnosed with infantile autism at 6.5 years (ADOS results above cut-off for autism). Birth/neonatal history: born at term after uneventful pregnancy; birth weight 4750 (>90th %ile), length 55 cm (>90th %ile), and OFC 37 cm (>90th %ile); unremarkable neonatal and infancy periods. Developmental milestones: first words at 12 months, unsupported walking at 15 months; macrocephaly (OFC >97th %ile), stagnation of expressive speech, stereotyped behavior, and missing eye contact noted at 2 years. Language and communication evaluation: expressive and receptive language skills limited to simple orders. Motor and musculoskeletal evaluation: mild hypotonia; long hands, hyperextensible joints, slight funnel chest; slightly retarded bone age revealed by X-ray of the hand at 10 years. Behavioral/psychiatric evaluation: very short attention span; stereotyped behavior; little functional or symbolic playing; almost no eye contact; minimal social adaptive skills; dog phobia. EEG: normal. Brain imaging: brain MRI and CT normal. Additional medical history: frequent middle ear infections. Dysmorphic features: mild dolichocephaly, low set hairline on the neck, broad face, hypertelorism, medial sparse eyebrows, bilateral prominent antihelices, posteriorly rotated ears, short and wide nose, full lips, widely spaced teeth, prominent upper incisors. Growth parameters: OFC >97th %ile, weight >97th %ile, length >97th %ile at 19 years. Family history: second of three children of healthy, non-consanguineous Caucasian parents; unremarkable family history.
Case diagnosed with severe intellectual disability at 6.5 years. Severe developmental delay on Vineland Adaptive Behavior Scales (developmental quotient 30; social behavior and communication behavior at the level of a 1.5 year old, and everyday life skills levels comparable to a 2.5 year old, at the age of 6.5 years).
101665432
102425432
760001
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
103290101
103314186
24086
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
brandler_16_ASD_discovery_controls_controlREACH000162
N/A
M
Control
Control; healthy sibling of ASD proband
100463896
100468372
4477
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlREACH000162
N/A
M
Control
Control from REACH cohort
100463894
100468372
4479
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
N/A
N/A
Control
No previous psychiatric history
103782254
103841765
59512
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB950801_1007853751
N/A
N/A
Control
No previous psychiatric history
102222345
102285693
63349
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900100_900100
N/A
N/A
Control
No previous psychiatric history
103740576
104005086
264511
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
N/A
N/A
Control
No previous psychiatric history
99829964
100194991
365028
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902583_902583
N/A
N/A
Control
No previous psychiatric history
100757419
100806215
48797
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11397.s1
NA
F
Control
NA
NA
99829983
100196203
366221
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
100611010
100643558
32549
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
101047755
101047857
103
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11397.s1
8.3
F
Control (matched sibling)
NA
NA
99830549
100194991
364443
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
102463994
102465762
1769
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
100611010
100630842
19833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12078.s1
5.8
F
Control (matched sibling)
NA
NA
100086386
100114484
28099
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
102676142
102706873
30732
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-caseREACH000443
Not available
Unknown
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
engchuan_15_ASD_discovery_cases-case8465_202
Unknown
GRIK2
gai_11_ASD_replication_cases-AU006604
Inherited
0 genes
gai_11_ASD_replication_cases-AU006605
Inherited
0 genes
girirajan_12_ASD/DD/ID_discovery_cases-case2047
NA
Unknown
Unknown
Unknown
SIM1
girirajan_12_ASD/DD/ID_discovery_cases-case2048
NA
Unknown
Unknown
Unknown
SIM1
girirajan_13a_ASD_discovery_cases-11756.p1
Unknown
Simplex
Unknown
NPM1P38,PRDX2P4,MCHR2,MCHR2-AS1
girirajan_13a_ASD_discovery_cases-13988.p1
Unknown
Simplex
Unknown
NPM1P38,PRDX2P4,MCHR2,MCHR2-AS1
griswold_12_ASD_discovery_cases-case17182
qPCR
Maternal
Multiplex
Segregated
ACTG1P18,GRIK2,ASCC3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000385
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
GRIK2
leppa_16_ASD_discovery_cases-AU1574303
Maternal
Simplex
Segregated (CNV not present in unaffected sibling)
R3HDM2P2,NPM1P10
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
prasad_12_ASD_discovery_cases-case114961L
Unknown
Unknown
Unknown
GRIK2
prasad_12_ASD_discovery_cases-case162340L
Unknown
Unknown
Unknown
GRIK2
prasad_12_ASD_discovery_cases-case54259
Unknown
Unknown
Unknown
ASCC3
prasad_12_ASD_discovery_cases-case65524
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case70721
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11318.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ASCC3
sanders_11_ASD_discovery_cases-11978.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12072.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12078.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12380.p1
Maternal
Simplex (quad-proband matched)
Segregated
ASCC3
sandoval_talamantes_23_ASD_discovery_cases-caseAUT35
Unknown
GRIK2,ACTG1P18
shen_10_ASD_discovery_cases-ASD-09-042
De novo
NA
NA
ACTG1P18,GRIK2
strunk_16_ASD/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
GRIK2
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_16_ASD_discovery_controls_controlREACH000162
Solid phase hybridization (Illumina 2.5M)
De novo
SIM1
brandler_18_ASD_discovery_controls-controlREACH000162
SNP VCF
De novo
SIM1
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
Unknown
engchuan_15_ASD_discovery_controls-controlB950801_1007853751
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900100_900100
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
Unknown
NPM1P38,PRDX2P4,MCHR2,MCHR2-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902583_902583
Unknown
ASCC3
levy_11_ASD_discovery_controls-11397.s1
Maternal
Simplex
NA
NPM1P38,PRDX2P4,MCHR2,MCHR2-AS1
sanders_11_ASD_discovery_controls-11309.s1
Paternal
Simplex (quad)
NA
ASCC3
sanders_11_ASD_discovery_controls-11379.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11397.s1
Maternal
Simplex (quad)
NA
NPM1P38,PRDX2P4,MCHR2,MCHR2-AS1
sanders_11_ASD_discovery_controls-11505.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11597.s1
Unknown
Simplex (quad)
NA
ASCC3
sanders_11_ASD_discovery_controls-12078.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12534.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available