15q12-q13.1CNV Type: Duplication
Largest CNV size: 965462 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
772177
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
334079
0
1
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
965462
0
1
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
2574600
0
1
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
3121109
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
2574600
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
feliciano_19_ASD_discovery_cases-caseSP0034531
N/A
M
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
27527381
28299557
772177
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D437
10 mos. 10 days
F
Developmental delay/Intellectual disability
Motor developmental delay
27806305
28140383
334079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
27133336
28007950
874615
GRCh38
Duplication
Yes
wintle_10_ASD_discovery_cases-AN17138
20
M
Autism
Autism
26129223
28460005
2330783
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327123
28 yrs.
M
Intellectual disability, ASD, ADHD, and OCD
Psychiatric history: autistic spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD). Mini PAS-ADD evaluation: obsessive compulsive disorder (OCD), autistic spectrum disorder (ASD). BPI-S evaluation: at least weekly self-injurious behavior, aggressive/destructive behavior, and stereotyped behavior. Medical history: epilepsy (grand mal and absence seizures). Dysmorphic features: cranial abnormality, facial asymmetry. Growth parameters: height 170 cm, head circumference 55.8 cm. Ethnicity: white (other).
Severe intellectual disability
26210617
29284668
3074052
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
feliciano_19_ASD_discovery_cases-caseSP0034531
Maternal
Simplex
RPL5P32,OCA2,GABRG3,HERC2
null
han_22_ASD/DD/ID_discovery_cases-case15D437
Unknown
OCA2,RPL5P32,HERC2
sanders_11_ASD_discovery_cases-12007.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,OCA2,GABRG3
wintle_10_ASD_discovery_cases-AN17138
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,LINC00929,LINC02248,TVP23BP1,GABRB3,GABRA5,OCA2,GABRG3,HERC2
wolfe_16_ID_discovery_cases-DECIPHER327123
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,GABRG3,HERC2,FAM189A1
Controls
No Control Data Available
No Animal Model Data Available