22q12.2CNV Type: Deletion-Duplication
Largest CNV size: 800000 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
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...
Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural di...
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
doornbos_09_15q11.2_discovery_cases
Patients in two genetic centres (University Medical Centre Groningen & Leiden University Medical Centre, Netherlands)
1576
Patients originally referred for mental retardation and/or multiple congenital abnormalities; all patients with 15q11.2 microdeletion were clinically re-evaluated.
800000
1
0
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
30135
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
596479
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
58052
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
718104
0
2
2
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
155500
0
1
1
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
30301
2
0
2
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
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
111794
0
3
3
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)
718104
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.
153011
0
1
1
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
479650
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
doornbos_09_15q11.2_discovery_cases
Dutch
aCGH, array SNP, MLPA
105K oligo array, Affymetrix 262K Nsp1
Feature Extraction V.9., CGH analytics V.3.4.27, CNAG version 2.2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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)
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
doornbos_09_15q11.2_discovery_cases-case5
5 yrs.
M
ADHD
Hypotonia & feeding problems as an infant. Delayed motor & speech development. Behavioral difficulties with attention deficit. Convlusions. Normal growth parameters, some dysmorphic features (plagiocephaly, broad forehead, hypertelorism). Genital abnormalities, recurrent infections, 13 pairs of ribs.
IQ of 70-92 (WISC-III)
30974014
31774014
800001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14330_4440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29937416
29967551
30136
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001133
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29664957
29713572
48616
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29281920
29878399
596480
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12695.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29636750
29694802
58053
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case129151L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
27921506
28639609
718104
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case53664
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
28604129
28627312
23184
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
29606451
29761951
155501
GRCh38
Duplication
No
schmitz-abe_20_ASD_discovery_cases-caseAU-2601
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
29940507
29970807
30301
GRCh38
Deletion
Yes
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-control12695.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29636750
29748544
111795
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13807.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29767398
29769719
2322
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14082.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29767398
29769719
2322
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
29608940
29761951
153012
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family21_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
29325172
29804821
479650
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
doornbos_09_15q11.2_discovery_cases-case5
Maternal
NA
NA
TUG1,RN7SL633P,PLA2G3,MIR3928,RNF185-AS1,RNU6-1128P,PIK3IP1,RNA5SP496,LINC01521,RNU6-338P,RNU6-28P,H2AFZP6,MIR7109,RN7SL20P,SMTN,SELENOM,INPP5J,LIMK2,PISD,RNF185,PIK3IP1-AS1,PATZ1,SFI1,PRR14L,DEPDC5,DRG1,EIF4ENIF1
engchuan_15_ASD_discovery_cases-case14330_4440
Unknown
MTMR3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001133
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RASL10A,SNORD125,RFPL4AP6,RPEP4,EWSR1,GAS2L1,RFPL1S,RFPL1,THOC5,NIPSNAP1,CABP7,UQCR10,ASCC2,NEFH,NF2,ZMAT5,AP1B1
krumm_15_ASD_discovery_cases-case12695.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NF2
prasad_12_ASD_discovery_cases-case129151L
Unknown
Unknown
Unknown
NIPSNAP1,GAS2L1,RASL10A,CABP7,MTMR3,RFPL1-AS1,NEFH,EMID1,RFPL1,UQCR10,MIR3653,RHBDD3,ASCC2,ZMAT5,AP1B1,THOC5,EWSR1,SNORD125,NF2
prasad_12_ASD_discovery_cases-case53664
Unknown
Unknown
Unknown
MTMR3
sanders_11_ASD_discovery_cases-12695.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPEP4,CABP7,NF2,ZMAT5
schmitz-abe_20_ASD_discovery_cases-caseAU-2601
qPCR
Both parents
Simplex
Segregated
MTMR3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control12695.s1
Illumina 1MDuo
Paternal
CABP7,NF2,ZMAT5
krumm_15_ASD_discovery_controls-control13807.s1
Omni2.5-4v1
De novo
UQCR10
krumm_15_ASD_discovery_controls-control14082.s1
Omni2.5-4v1
De novo
UQCR10
sanders_11_ASD_discovery_controls-12695.s1
Paternal
Simplex (quad)
NA
RPEP4,CABP7,NF2,ZMAT5
stamouli_18_ASD/NDD_discovery_controls-family21_Twin_2
Unknown
N/A (both twins typically developing)
SNORD125,RFPL4AP6,RPEP4,RFPL1S,RFPL1,THOC5,NIPSNAP1,CABP7,UQCR10,ASCC2,NEFH,NF2,ZMAT5,AP1B1
No Animal Model Data Available