9q34.11CNV Type: Deletion-Duplication
Largest CNV size: 604444 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
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
185956
1
0
1
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
880421
1
0
1
campbell_12_ASD/EP/ID_discovery_cases
Unrelated children with variable clinical phenotypes found to have a 9q34.11 deletion as determined by aCGH.
10
All cases with intellectual disability (ranging from mild to profound), hypotonia, and speech impairment. 4 cases with epilepsy, 2 cases with ASD.
Range, 2-15 yrs.
60% Male
2878000
5
0
5
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
297371
1
1
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
4462
2
0
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
1055943
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
81419
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
2610338
1
3
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
446234
0
3
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
604444
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
13953
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
76759
0
1
1
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
10462
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
599729
6
1
7
yang_21_DD_discovery_cases
Individual with a de novo 9q34.11 deletion that resulted in loss of exons 13 through 20 and 3 downstream of the STXBP1 gene
1
Case presented with developmental delay, autistic features, and stereotypy
2 yrs.
Male
50128
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
1911
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
399876
0
2
2
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
12796
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
98740
0
6
6
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)
13953
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.
13289
4
0
4
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
1911
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
campbell_12_ASD/EP/ID_discovery_cases
NA
aCGH
Agilent custom 9q34 60K arrays
Agilent Genomic Workbench, R Statistical Computing Package
FISH, long-range PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
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
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
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
qPCR
yang_21_DD_discovery_cases
NA
CMA
ThermoFisher CytoScan HD
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB325
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
128862089
129048044
185956
GRCh38
Deletion
Yes
bowling_17_DD/ID_discovery_cases-case00133-C
N/A
N/A
Intellectual disability
Intellectual disability (moderate); Hypotonia; MRI Brain: delayed myelination within the periventricular white matter and corona radii; Pes planus with severe pronated feet; Short stature
Moderate intellectual disability
128401129
129281549
880421
GRCh38
Deletion
No
campbell_12_ASD/EP/ID_discovery_cases-case1
2 yrs.
F
Intellectual disability
Age at onset of epilepsy: NA. Epilepsy type: none. EEG: NA. MRI/CT: normal. Neurological examination: hypotonia and hypertonia. Ophthalmological abnormalities: none. Psychomotor regression: none. Speech impairment: severe. Other manifestations: mild dysmorphic features.
Profound intellectual disability
127677549
130445303
2767755
GRCh38
Deletion
Yes
campbell_12_ASD/EP/ID_discovery_cases-case5
13 yrs.
F
ASD, epilepsy and ID
Age at onset of epilepsy: neonatal. Epilepsy type: neonatal seizures. EEG: multifocal seizure discharge. MRI/CT: normal. Neurological examination: hypotonia, ataxia, dyskinesia, pyramidal signs. Ophthalmological abnormalities: none. Psychomotor regression: yes. Speech impairment: severe. Other manifestations: gastroesophageal reflux.
Severe intellectual disability
127591345
127659050
67706
GRCh38
Deletion
Yes
campbell_12_ASD/EP/ID_discovery_cases-case6
5 yrs.
F
Intellectual disability
Age at onset of epilepsy: NA. Epilepsy type: none. EEG: NA. MRI/CT: small pituitary. Neurological examination: hypotonia, ataxia. Ophthalmological abnormalities: strabismus. Psychomotor regression: yes (limited to speech). Speech impairment: severe. Other manifestations: mild dysmorphic features.
Severe intellectual disability
128193820
129841311
1647492
GRCh38
Deletion
Yes
campbell_12_ASD/EP/ID_discovery_cases-case7
5 yrs.
M
Intellectual disability
Age at onset of epilepsy: NA. Epilepsy type: none. EEG: NA. MRI/CT: Chiari type I malformation. Neurological examination: hypotonia. Ophthalmological abnormalities: none. Psychomotor regression: none. Speech impairment: mild. Other manifestations: mild dysmorphic features.
Moderate intellectual disability
128644038
130606905
1962868
GRCh38
Deletion
Yes
campbell_12_ASD/EP/ID_discovery_cases-case9
3 yrs.
M
Intellectual disability
Age at onset of epilepsy: NA. Epilepsy type: none. EEG: NA. MRI/CT: delayed myelination. Neurological examination: hypotonia. Ophthalmological abnormalities: none. Psychomotor regression: none. Speech impairment: severe. Other manifestations: clubbed feet.
Mild intellectual disability
128341117
129087724
746608
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13038_473
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130295526
130529789
234264
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14298_4190
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
129803372
130067075
263704
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259407
N/A
M
Learning disability
Ataxia; Specific learning disability; Hypermetropia; Single transverse palmar crease; Long hallux; Neutropenia
128609213
128613675
4463
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261227
N/A
M
Developmental delay and seizures
Global developmental delay; Delayed speech and language development; Generalized tonic-clonic seizures
128580676
128583735
3060
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12235.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
128061051
129116994
1055944
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY123
6 yrs. 5 mos.
M
ASD
130387433
130468851
81419
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001710
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127874581
130421811
2547231
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002221
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129036400
130578683
1542284
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002274
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127919476
130079974
2160499
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002496
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128808545
129002107
193563
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12235.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
128261171
128707405
446235
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
127868007
127874618
6612
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13863.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
127868007
127874618
6612
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12235.p1
NA
M
ASD
NA
NA
128105817
128710260
604444
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case47029
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
130848053
130862005
13953
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-298
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
130232881
130309639
76759
GRCh38
Duplication
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG000982
NA
M
Seizures
Patient was of South Asian ancestry and presented with seizures.
127681711
127692172
10462
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11203.p1
7.1
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
129743380
129753451
10072
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
127819444
127822752
3309
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
129541322
129546564
5243
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
129541322
129546564
5243
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
128877886
128889108
11223
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
129233792
129248802
15011
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
128107279
128707008
599730
GRCh38
Duplication
Yes
yang_21_DD_discovery_cases-case1
2 yrs.
M
Developmental delay, autistic features, and stereotypy
Birth/neonatal history: feeding difficulties noted in the first few weeks after birth. Developmental milestones: motor delay, delayed ability to sit (12 months), delayed ability to walk (24 months with assistance), fine motor delay, speech delay. Motor and musculoskeletal evaluation: generalized hypotonia, mild bilateral 5th finger clinodactyly. Behavioral/psychiatric evaluation: stereotypies (hand-flapping) and autistic traits (preoccupation with spinning objects) at 2 years of age. Epilepsy/seizures: staring spells at 3 years. EEG: mild background slowing at 3 years (no evidence of abnormal epileptiform activity). Brain imaging: increased periventricular T2 signal suggestive of delayed myelination. Dysmorphic features: brachycephaly. Growth parameters: height 85 cm (10th-25th %ile), weight 11.85 kg (10th %ile), OFC 47 cm (3rd %ile).
127673212
127723339
50128
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case374
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
129849062
129850972
1911
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-controlB116679_1007853952
N/A
N/A
Control
No previous psychiatric history
127673625
128073501
399877
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
N/A
N/A
Control
No previous psychiatric history
129104109
129134942
30834
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11634.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
128936447
128949243
12797
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12778.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
128835322
128838367
3046
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13210.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
127868007
127874618
6612
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
128980604
128998625
18022
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
129858048
129874758
16711
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
128956950
128993696
36747
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
128220179
128313891
93713
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
128835321
128934060
98740
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45035
N/A
M
Control
NIMH Control (NIMH ID 17924)
128253099
128263094
9996
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
127819444
127822752
3309
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
129541322
129546564
5243
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
129963996
129977285
13290
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13159.s1
13.6
M
Control (matched sibling)
NA
NA
127846017
127850386
4370
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB325
qPCR, FISH
Paternal
KYAT1,SH3GLB2,LRRC8A,MIGA2,PHYHD1,DOLK,NUP188
bowling_17_DD/ID_discovery_cases-case00133-C
De novo
Likely segregated
ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,SPTAN1,PKN3,KYAT1,CRAT,NUP188
campbell_12_ASD/EP/ID_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
MIR3911,TOR2A,CDK9,MIR3960,MIR2861,RNA5SP296,MIR4672,DPM2,NAIF1,SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,PTRH1,CFAP157,TTC16,SH2D3C,ENG,AK1,ST6GALNAC6,ST6GALNAC4,FAM102A,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,ASS1,STXBP1,FPGS,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,LINC00963,NTMT1,HMCN2,PIP5KL1,NUP188,FNBP1
campbell_12_ASD/EP/ID_discovery_cases-case5
FISH, long-range PCR
Unknown
Unknown
Unknown
STXBP1
campbell_12_ASD/EP/ID_discovery_cases-case6
FISH, long-range PCR
Unknown
Unknown
Unknown
MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,LINC00963,NTMT1,NUP188
campbell_12_ASD/EP/ID_discovery_cases-case7
FISH
Unknown
Unknown
Unknown
VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,ASS1,FUBP3,PKN3,KYAT1,CRAT,LINC00963,NTMT1,HMCN2,NUP188,FNBP1
campbell_12_ASD/EP/ID_discovery_cases-case9
FISH
Unknown
Unknown
Unknown
TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,SPTAN1,PKN3,KYAT1,NUP188
engchuan_15_ASD_discovery_cases-case13038_473
Unknown
RN7SL665P,ASS1,HMCN2
engchuan_15_ASD_discovery_cases-case14298_4190
Unknown
TOR1A,C9orf78,MIR6855,TOR1B,USP20,GPR107,FNBP1
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259407
De novo
Simplex
Segregated
SPTAN1
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261227
De novo
Simplex
Segregated
SPTAN1
girirajan_13a_ASD_discovery_cases-12235.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
NAIF1,SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,NUP188
han_22_ASD/DD/ID_discovery_cases-caseY123
Unknown
ASS1,HMCN2,RN7SL665P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001710
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
DPM2,NAIF1,SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,AK1,ST6GALNAC6,ST6GALNAC4,FAM102A,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,LINC00963,NTMT1,HMCN2,PIP5KL1,NUP188,FNBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002221
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,ASS1,CRAT,LINC00963,NTMT1,HMCN2,FNBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002274
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DPM2,NAIF1,SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,FAM102A,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,LINC00963,NTMT1,PIP5KL1,NUP188,FNBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002496
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ENDOG,DOLK,TBC1D13,SPOUT1,LRRC8A,PHYHD1,KYAT1,NUP188
krumm_15_ASD_discovery_cases-case12235.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,TRUB2,SPTAN1,PKN3
krumm_15_ASD_discovery_cases-case13210.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR4672,AK1
krumm_15_ASD_discovery_cases-case13863.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR4672,AK1
levy_11_ASD_discovery_cases-12235.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,CIZ1,TRUB2,SPTAN1,PKN3
prasad_12_ASD_discovery_cases-case47029
Unknown
Unknown
Unknown
FAM73B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-298
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
NCS1,HMCN2
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG000982
Unknown
Simplex
PTRH1,MIR3911,STXBP1
sanders_11_ASD_discovery_cases-11203.p1
Paternal
Simplex (quad-proband matched)
Segregated
PTGES
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ENG
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11600.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11691.p1
Unknown
Simplex (quad-proband matched)
Segregated
LRRC8A,KYAT1
sanders_11_ASD_discovery_cases-11734.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12235.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,CIZ1,TRUB2,SPTAN1,PKN3
yang_21_DD_discovery_cases-case1
qPCR
De novo
PTRH1,TTC16,CFAP157,MIR3911,STXBP1
yin_16_ASD_discovery_cases-case374
Unknown
Unknown
Unknown
USP20
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB116679_1007853952
Unknown
MIR3911,TOR2A,CDK9,MIR3960,MIR2861,RNA5SP296,MIR4672,DPM2,NAIF1,PTRH1,CFAP157,TTC16,SH2D3C,ENG,AK1,ST6GALNAC6,ST6GALNAC4,FAM102A,SLC25A25,STXBP1,FPGS,PIP5KL1
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
Unknown
PTPA,CRAT
krumm_15_ASD_discovery_controls-control11634.s1
Illumina 1MDuo
Paternal
DOLK,PHYHD1,NUP188
krumm_15_ASD_discovery_controls-control12778.s1
1M-Duov3
Paternal
KYAT1
krumm_15_ASD_discovery_controls-control13210.s1
1M-Duov3
Maternal
MIR4672,AK1
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
NUP188
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR6855,USP20
poultney_13_ASD_discovery_controls-control05C44621
Unknown
NUP188
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR199B,MIR3154,DNM1,GOLGA2,SWI5,TRUB2
poultney_13_ASD_discovery_controls-control05C44621
Unknown
LRRC8A,PHYHD1,KYAT1
poultney_13_ASD_discovery_controls-control05C45035
Unknown
DNM1,GOLGA2
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
ENG
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Paternal
Simplex (quad)
NA
FNBP1
sanders_11_ASD_discovery_controls-13159.s1
Unknown
Simplex (quad)
NA
ENG
No Animal Model Data Available