3q22.3CNV Type: Deletion-Duplication
Largest CNV size: 85418 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-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
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
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
389864
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
31227
0
1
1
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
18
7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
Average, 9.9 years
66.67% Male
261658
0
1
1
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
385000
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
153171
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
849505
3
2
5
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
35032
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
79059
0
2
2
lehalle_17_DD/ID_discovery_cases
7 individuals from 6 families presenting with 3q22.3 deletion containing the STAG1 gene
7
All 7 cases present with developmental delay/intellectual disability; epilepsy observed in 3/7 cases, and autistic features observed in 2/7 cases
Range, 2-33 yrs.
57.14% Male
531000
7
0
7
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
76989
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
66959
0
1
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
35320
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
366808
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)
322223
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
117623
1
2
3
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
85418
7
2
9
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
35032
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
21438
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
76989
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)
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)
117623
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.
57699
7
1
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
None
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lehalle_17_DD/ID_discovery_cases
N/A
aCGH, array SNP, WGS
Agilent Human Genome CGH 180K, Agilent Human Genome CGH 60K, Affymetrix CytoScan 750K, Affymetrix 250K-Nsp1, WGS
Agilent Feature Extraction v.9.1, Agilent CGH Analytics v.4.0
qPCR, FISH
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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
gai_11_ASDS_replication_cases-AU0881301
Autism
137518427
137908290
389864
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case562-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
136914662
136945889
31228
GRCh38
Duplication
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
10 yrs.
F
ASD and developmental delay/intellectual disability
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Moderate developmental delay/intellectual disability, dysmorphic features. Developmental milestones: sitting at 12 months, walking at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 80th %ile, OFC 36th %ile. Ethnicity: Vietnamese. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 38.
138408600
138670257
261658
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU0881301
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
136338468
136728468
390001
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case30
2 yrs. 11 mos.
M
Intellectual disability
Speech delay, obesity, hypogenitalism
Mild intellectual disability
136790230
136943401
153172
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000471
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138946408
138948348
1941
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001166
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137593514
138443019
849506
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004959
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138945182
138946841
1660
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005230
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138945182
138946841
1660
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005432
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138296035
139015548
719514
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11067.p1
N/A
M
ASD
ASD proband from SSC quad family 11067. SRS score of 85.
Full-scale IQ (FSIQ) score of 130.
138062815
138097847
35033
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11333.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
138130848
138209907
79060
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14295.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
138062815
138084253
21439
GRCh38
Duplication
Yes
lehalle_17_DD/ID_discovery_cases-patient1
8 yrs.
M
Intellectual disability
Birth/neonatal history: pregnancy marked by intrauterine growth retardation; born at 38 weeks; birth weight of 2370 g (1st %ile), length of 48 cm (25th %ile), and OFC of 31 cm (1st %ile); severe gastrointestinal reflux in neonatal period. Developmental milestones: developmental delay noticed from first months; walking at 23 months, spoke a few words at 5 years, made sentences at 7 years. Behavioral/psychiatric evaluation: anxious and quiet behavior. Epilepsy/seizures: none reported. Brain imaging: normal brain MRI and TDM. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth, widely spaced central incisors, thin eyebrows. Growth parameters: weight -3 SD, length -2 SD, and OFC -3 SD. Family history: sixth child of non-related parents; two siblings with minor learning difficulties, family history otherwise unremarkable.
Moderate intellectual disability
136260901
136791970
531070
GRCh38
Deletion
Yes
lehalle_17_DD/ID_discovery_cases-patient2
12 yrs.
F
Intellectual disability, epilepsy, and autistic features
Birth/neonatal history: born at 39 weeks after normal pregnancy; intrauterine growth retardation; birth weight of 2450 g (1st %ile), length of 47 cm (3rd %ile), and OFC of 30.5 cm (<1st %ile); neonatal feeding difficulties (poor suck, failure to thrive). Developmental milestones: severely delayed development; walking at 3 years, no speech and 12 years. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypertonia of the lower limbs. Behavioral/psychiatric evaluation: autistic features. Epilepsy/seizures: atypical absence seizures at 5 years. Brain imaging: not performed. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth, widely spaced central incisors, thin eyebrows. Growth parameters: microcephaly (OFC -4 SD); weight 0 SD, length 0 SD. Family history: negative.
Severe intellectual disability
136316680
136694106
377427
GRCh38
Deletion
Yes
lehalle_17_DD/ID_discovery_cases-patient3
33 yrs.
F
Intellectual disability and autistic features
Birth/neonatal history: born at 37 weeks after normal pregnancy; birth weight of 2000 g (3rd %ile), birth length and OFC not available; initially tube-fed. Developmental milestones: poor eye contact noted in first months of life; delayed psychomotor development; walking at 30-36 months; first words at 3.5 years. Behavioral/psychiatric evaluation: autistic features. Epilepsy/seizures: none reported. Brain imaging: central atrophy in the right hemisphere on brain CT scan. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth, thin eyebrows. Growth parameters: normal (weight 0 SD, length 0 SD, OFC 0 SD). Family history: negative.
Severe intellectual disability
136264342
136664587
400246
GRCh38
Deletion
No
lehalle_17_DD/ID_discovery_cases-patient4
7 yrs.
M
Intellectual disability and epilepsy
Birth/neonatal history: intrauterine growth retardation; born full-term; birth weight 2600 g (<1st-3rd %ile), length and OFC not available. Developmental milestones: severe developmental delay; head control at 6 months; unable to sit at 7 years. Language and communication evaluation: very few words, almost no non-verbal communication skills, fluctuant eye contact. Motor and musculoskeletal evaluation: scoliosis that required orthopedic surgery; spastic tetraparesis. Behavioral/psychiatric evaluation: no autistic features or other behavioral concerns reported. Epilepsy/seizures: generalized epilepsy at 15 months. Brain imaging: global brain atrophy predominant on the cerebellar vermis on brain MRI. Additional medical history: myopia; bilateral inguinal hernia. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth. Growth parameters: weight -2.5 SD, length -1 SD, OFC -1.5 SD. Family history: only child; parents are first cousins.
Severe intellectual disability
136390696
136591869
201174
GRCh38
Deletion
Yes
lehalle_17_DD/ID_discovery_cases-patient5a
6 yrs.
M
Intellectual disability
Birth/neonatal history: weight 25th-50th %ile, length 75th %ile, and OFC 98th %ile at 2 weeks. Developmental milestones: walking at 11-12 months; speech delay (sentences at 5 years). Behavioral/psychiatric evaluation: no autistic features or other behavioral concerns reported. Epilepsy/seizures: none reported. Brain imaging: not performed. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth. Growth parameters: weight -1 SD, length 0 SD, OFC -2 SD. Family history: maternal half-brother of patient 5b; family history of intellectual disability on the maternal side of the family (all six members carry the same STAG1 deletion); history of learning difficulties on paternal side of the family.
Mild intellectual disability
136535900
136708991
173092
GRCh38
Deletion
No
lehalle_17_DD/ID_discovery_cases-patient5b
2 yrs.
F
Intellectual disability
Birth/neonatal history: normal pregnancy; birth weight 9th-25th %ile (length and OFC not available); neonatal period marked by early feeding difficulties and suspected gastroesophageal reflux. Behavioral/psychiatric evaluation: no autistic features or other behavioral concerns reported. Epilepsy/seizures: none reported. Brain imaging: not performed. Dysmorphic features: brachycephaly, deep-set eyes, thin eyebrows, straight eyebrows with medial flaring. Growth parameters: microcephaly (OFC -3 SD); weight 0 SD, length not available. Family history: maternal half-sister of patient 5a; family history of intellectual disability on the maternal side of the family (all six members carry the same STAG1 deletion); history of learning difficulties on paternal side of the family.
Mild intellectual disability
136535900
136708991
173092
GRCh38
Deletion
No
lehalle_17_DD/ID_discovery_cases-patient6
6 yrs.
M
Intellectual disability and epilepsy
Birth/neonatal history: pregnancy obtained by in vitro fertilization for paternal infertility; pregnancy complicated by ultrasound diagnosis of increased nuchal translucency, polyhydramnios, ventricular septal defect, and single unbilical artery; developed cardiac failure and underwent surgery to repeat VSD at 4 weeks; birth weight 70th %ile, length 80th %ile, and OFC 80th %ile; gastroesophageal reflux during neonatal period; diagnosed with severe vesicoureteral reflux at 6 weeks (surgery at 2 years); underwent orchidopexy for bilateral cryptorchidism at 2 years. Developmental milestones: developmental delay; walking at 24 months; speech delay. Behavioral/psychiatric evaluation: no autistic features or other behavioral concerns reported. Epilepsy/seizures: partial atonic seizures at 12 months (treated with levetiracetam). EEG: generalized spikes and waves discharges. Brain imaging: symmetric dilatation of the ventricles and pericerebral space, possible partial vermis hypoplasia on brain MRI. Additional medical history: conductive hearing loss. Dysmorphic features: hypertelorism, deep-set eyes, wide mouth, thick eyebrows, high nasal bridge. Growth parameters: weight 0 SD, length -1 SD, OFC + 1 SD. Family history: negative.
Intellectual disability
136250913
136586634
335722
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11067.p1
NA
M
ASD
NA
NA
138049320
138126308
76989
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case119903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
136486165
136553123
66959
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case3
8 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: microotia, microretrognathia, deep philtrum, strabismus, narrow palpebral fissures, hypotonia, contractures
134871229
134906547
35319
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case8587_210
N/A
F
ASD
Autism (ADI-R and ADOS positive), no language delay (first words 10 mo, first phrases 12 mo), verbal. Family history: N/A.
Average IQ (WISC-III at 13 y 9 mo: VIQ 92, PIQ 78, FSIQ 84)
138559364
138926171
366808
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2304A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0881301; NDAR ID NDAR_INVRE134JKL)
136301028
136623250
322223
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100676L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
138712001
138723519
11519
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115748L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
139255955
139284652
28698
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case98105
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
139735559
139853181
117623
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11067.p1
11.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
138048231
138125803
77573
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
136626977
136627771
795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
138131161
138216579
85419
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
137311751
137323774
12024
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
137311751
137323774
12024
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
136626977
136627771
795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
137311341
137323774
12434
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
137311341
137323774
12434
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
137307798
137323774
15977
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
krumm_13_ASD_discovery_controls-control11067.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11067. SRS score of 40.
138062815
138097847
35033
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12106.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12106. SRS score of 56.
138062815
138084253
21439
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12106.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
138062815
138084253
21439
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14295.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
138062815
138084253
21439
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11067.s1
NA
F
Control
NA
NA
138049320
138126308
76989
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
138048231
138105930
57700
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
137311751
137323774
12024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
137311751
137323774
12024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
137311751
137323774
12024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
137296645
137323774
27130
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
137311341
137323774
12434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12445.s1
6.6
M
Control (matched sibling)
NA
NA
137311341
137328545
17205
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
136626977
136627771
795
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASDS_replication_cases-AU0881301
Inherited
PCCB, STAG1
gazzellone_14_ASD_discovery_cases-case562-3
Unknown
Unknown
Unknown
NCK1
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
Paternal
Simplex
Unknown
PPIAP72,ESYT3,FAIM,CEP70,PIK3CB
girirajan_13a_ASD_discovery_cases-AU0881301
Unknown
Multiplex
Unknown
RNU6-1284P,HMGN1P10,RNU6-789P,STAG1
iourov_12_ASD/ID/EP_discovery_cases-case30
Unknown
Unknown
Unknown
RAD51AP1P1,NCK1-DT,NCK1,SLC35G2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000471
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FOXL2,FOXL2NB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001166
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SOX14,HSPA8P9,KRT8P36,A4GNT,NPM1P17,LINC01210,DZIP1L,DBR1,MRAS,ESYT3,CLDN18,ARMC8,NME9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004959
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FOXL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005230
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FOXL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005432
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAP72,GAPDHP39,RPL23AP40,EEF1A1P25,ATP5MC1P3,FOXL2,PRR23A,MRAS,ESYT3,FAIM,FOXL2NB,ARMC8,NME9,CEP70,PIK3CB,LINC01391,MRPS22
krumm_13_ASD_discovery_cases-case11067.p1
Maternal
Simplex
Not segregated
DZIP1L
krumm_15_ASD_discovery_cases-case11333.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
A4GNT,DBR1,ARMC8
krumm_15_ASD_discovery_cases-case14295.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
DZIP1L
lehalle_17_DD/ID_discovery_cases-patient1
qPCR
De novo
Simplex
Likely segregated
RNU6-1284P,HMGN1P10,RNU6-789P,STAG1,PCCB
lehalle_17_DD/ID_discovery_cases-patient2
FISH
De novo
Simplex
Likely segregated
RNU6-1284P,HMGN1P10,STAG1,PCCB
lehalle_17_DD/ID_discovery_cases-patient3
De novo
Simplex
Likely segregated
RNU6-1284P,HMGN1P10,STAG1,PCCB
lehalle_17_DD/ID_discovery_cases-patient4
qPCR
Unknown (not maternal
Unknown
RNU6-1284P,STAG1
lehalle_17_DD/ID_discovery_cases-patient5a
Maternal
Maternal
Multi-generational
Segregated
HMGN1P10,STAG1
lehalle_17_DD/ID_discovery_cases-patient5b
Maternal
Maternal
Multi-generational
Segregated
HMGN1P10,STAG1
lehalle_17_DD/ID_discovery_cases-patient6
Unknown
Simplex
Unknown
RNU6-1284P,STAG1,PCCB
levy_11_ASD_discovery_cases-11067.p1
Maternal
Simplex
Not segregated
KRT8P36,A4GNT,DZIP1L
mosca_16_DCD_discovery_cases-case119903
Unknown
Unknown
Unknown
STAG1
oikonomakis_16_ASD_discovery_cases-case3
De novo
EPHB1
pinto_14_ASD_discovery_cases2-case8587_210
qPCR
De novo
Unknown
Unknown (not tested)
PPIAP72,GAPDHP39,RPL23AP40,EEF1A1P25,ATP5MC1P3,FAIM,CEP70,PIK3CB
poultney_13_ASD_discovery_cases-case01HI2304A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-1284P,HMGN1P10,STAG1,PCCB
prasad_12_ASD_discovery_cases-case100676L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case115748L
Unknown
Unknown
Unknown
DZIP1L
prasad_12_ASD_discovery_cases-case98105
Unknown
Unknown
Unknown
FAIM,CEP70
sanders_11_ASD_discovery_cases-11067.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRT8P36,A4GNT,DZIP1L
sanders_11_ASD_discovery_cases-11133.p1
Maternal
Simplex (trio)
NA
STAG1
sanders_11_ASD_discovery_cases-11333.p1
Paternal
Simplex (quad-proband matched)
Segregated
A4GNT,DBR1,ARMC8
sanders_11_ASD_discovery_cases-11941.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12071.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12103.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
STAG1
sanders_11_ASD_discovery_cases-12434.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control11067.s1
Maternal
Simplex
DZIP1L
krumm_13_ASD_discovery_controls-control12106.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
DZIP1L
krumm_15_ASD_discovery_controls-control12106.s1
Illumina 1MDuo
Maternal
DZIP1L
krumm_15_ASD_discovery_controls-control14295.s1
Omni2.5-4v1
Paternal
DZIP1L
levy_11_ASD_discovery_controls-11067.s1
Maternal
Simplex
NA
KRT8P36,A4GNT,DZIP1L
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
KRT8P36,DZIP1L
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11239.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12445.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Maternal
Simplex (quad)
NA
STAG1
No Animal Model Data Available