3q25.32CNV Type: Deletion
Largest CNV size: 11573 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
81619
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
648859
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
285288
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
112494
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
34385
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
403139
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
11573
1
0
1
scala_20_ASD/ADHD/DD/ID_discovery_cases
Individuals from 6 consanguineous families with homozygous variants affecting the RSRC1 gene
17
All 17 individuals presented with global developmental delay; 12 individuals presented with mild-to-moderate intellectual disability, 7 individuals with autism spectrum disorder, and 3 individuals with ADHD.
Range, 11 mos.-22 yrs.
47.06% Male
81324
6
0
6
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
112494
1
1
2
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
34385
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
12247
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
No
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
scala_20_ASD/ADHD/DD/ID_discovery_cases
European, Middle Eastern
WES, aCGH
Agilent 180K
Agilent Cytogenomics v.3.3
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
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
egger_14_ASD_discovery_cases-caseA27
19 yrs. (born 1995)
M
ASD
Diagnosis: atypical autism. Co-morbidities/additional features: horseshoe kidney, hypermetropia +5dpt. Family history: brother has ADHD. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive impairment (IQ 60-80)
157357799
157439417
81619
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12215.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
158431768
159080627
648860
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY105
5 yrs. 1 mo.
M
ASD and intellectual disability
Intellectual disability
158201620
158486907
285288
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case13858.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158592433
158704927
112495
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case45
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
158625138
158659523
34386
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case81
N/A
N/A
Non-NDD
Disease cohort: movement disorder. Description: GFM1 deletion
158666303
159069442
403140
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
158686478
158698051
11574
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case1
3 yrs.
F
Developmental delay
Birth/neonatal history: floppiness at birth, weak cry. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia, hyporeflexia. Additional medical history: strabismus, dysphagia, gastoesophageal reflux, drooling. Dysmorphic features: unspecified dysmorphic features, redundant skin, skin dimples. Growth parameters: failure to thrive. Family history: individual from an extended Amish family with a common ancestor composed of two distantly related families.
158539125
158620448
81324
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case2
6 yrs.
M
ASD, DD, ID
Developmental milestones: global developmental delay, speech delay. Motor and musculoskeletal evaluation: hypotonia, gait ataxia, pes planus, cubitus valgus. Behavioral/psychiatric evaluation: ASD. Brain imaging: prominent subarachnoid spaces on brain MRI. Additional medical history: drooling, incontinence. Dysmorphic features: unspecified dysmorphic features, redundant skin, skin dimples. Growth parameters: failure to thrive. Family history: individual from an extended Amish family with a common ancestor composed of two distantly related families.
Mild intellectual disability
158539125
158620448
81324
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case3
5 yrs.
M
ASD, ADHD, DD
Developmental milestones: global developmental delay, speech delay. Motor and musculoskeletal evaluation: hypotonia, gait ataxia, pes planus, cubitis valgus. Behavioral/psychiatric evaluation: ADHD, ASD. Brain imaging: prominent subarachnoid spaces on brain MRI. Additional medical history: strabismus, drooling, incontinence. Dysmorphic features: unspecified dysmorphic features, redundant skin, skin dimples. Family history: individual from an extended Amish family with a common ancestor composed of two distantly related families.
158539125
158620448
81324
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case4
11 mos.
M
Developmental delay
Developmental milestones: global developmental delay, speech delay. Motor and musculoskeletal evaluation: hypotonia. Dysmorphic features: unspecified dysmorphic features, redundant skin, skin dimples. Family history: individual from an extended Amish family with a common ancestor composed of two distantly related families.
158539125
158620448
81324
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case8
9 yrs.
M
DD, ID, ADHD
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia, pes planus. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: febrile seizures. Family history: born to consanguineous Pakistani parents.
Moderate intellectual disability
158122022
158122525
504
GRCh38
Deletion
No
scala_20_ASD/ADHD/DD/ID_discovery_cases-case9
11 yrs.
M
DD, ID, ADHD
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia, pes planus. Behavioral/psychiatric evaluation: ADHD. Family history: born to consanguineous Pakistani parents.
Moderate intellectual disability
158122022
158122525
504
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_15_ASD_discovery_controls-control13916.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158592433
158704927
112495
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13982.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158704775
158713859
9085
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
158029134
158041381
12248
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egger_14_ASD_discovery_cases-caseA27
Unknown
Multiplex for NDD (brother with ADHD)
Unknown
PTX3,VEPH1
girirajan_13a_ASD_discovery_cases-12215.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MTAPP1,GPR79,GFM1,LXN,MFSD1,MLF1,RARRES1,IQCJ,RSRC1,IQCJ-SCHIP1
han_22_ASD/DD/ID_discovery_cases-caseY105
Paternal
RSRC1
krumm_15_ASD_discovery_cases-case13858.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MTAPP1,GFM1,LXN,MLF1,RARRES1
larson_17_ASD_discovery_cases-case45
Unknown
Unknown
GFM1,LXN
pfundt_16_nonNDD_discovery_cases-case81
GPR79,GFM1,LXN,MFSD1,RARRES1,IQCJ,IQCJ-SCHIP1
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
GFM1,RARRES1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case1
Both parents
Extended multiplex
Segregated
MTAPP1,MLF1,RSRC1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case2
Both parents
Extended multiplex
Segregated
MTAPP1,MLF1,RSRC1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case3
Both parents
Extended multiplex
Segregated
MTAPP1,MLF1,RSRC1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case4
Both parents
Extended multiplex
Segregated
MTAPP1,MLF1,RSRC1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case8
Both parents
Multiplex
Segregated
RSRC1
scala_20_ASD/ADHD/DD/ID_discovery_cases-case9
Both parents
Multiplex
Segregated
RSRC1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control13916.s1
Omni2.5-4v1
Paternal
MTAPP1,GFM1,LXN,MLF1,RARRES1
krumm_15_ASD_discovery_controls-control13982.s1
Omni2.5-4v1
Maternal
RARRES1
sanders_11_ASD_discovery_controls-12153.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available