11q12.2CNV Type: Deletion-Duplication
Largest CNV size: 55365 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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
55365
2
1
3
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
43606
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
96082
0
1
1
li_23_ASD/DD_discovery_cases
Case with a de novo 11q12.2 microduplication affecting the PRPF19 gene (from an initial cohort of 6 individuals with de novo PRPF19 variants, 5 of whom were identified via GeneMatcher)
1
Case was formally diagnosed with autism spectrum disorder and presented with developmental delay
7 yrs.
Male
407562
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
15159
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
14803
2
0
2
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
32283
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
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
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
24261
0
1
1
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)
15159
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.
4748
2
0
2
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
32283
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
li_23_ASD/DD_discovery_cases
African American
Sanger sequencing
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
celestino-soper_11_ASD_discovery_cases-11345
NA
M
ASD
NA
NA
61197667
61253014
55348
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11406
NA
M
ASD
NA
NA
61203662
61248430
44769
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11499
NA
M
ASD
NA
NA
61198244
61253609
55366
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case3088_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60960849
61004455
43607
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case14409.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
61006558
61102640
96083
GRCh38
Duplication
Yes
li_23_ASD/DD_discovery_cases-casePRPF19-3
7 yrs.
M
ASD and developmental delay
Developmental milestones: developmental delay, fine motor delay. Language and communication evaluation: mild to moderate expressive and receptive language and communication disorder. Behavioral/psychiatric evaluation: formal diagnosis of autism. Dysmorphic features: downslanting palpebral fissures, thin lips, periorbital fullness. Growth parameters: increased body weight (Z-score 2.82), tall stature (height Z-score 3.32).
60787671
61195232
407562
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case72816L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
61261340
61276498
15159
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
60460772
60461318
547
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12901.p1
5.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
60470665
60485468
14804
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case410
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
61620190
61652472
32283
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
nord_11_ASD_discovery_controls-04C28230
Control
60960367
60984627
24261
Unknown
Duplication
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
60539294
60544042
4749
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
60460772
60461318
547
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11345
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
PGA4,PGA5,PGA3
celestino-soper_11_ASD_discovery_cases-11406
Unknown
Simplex
NA
PGA4,PGA5,PGA3
celestino-soper_11_ASD_discovery_cases-11499
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
PGA4,PGA5,PGA3
engchuan_15_ASD_discovery_cases-case3088_3
Unknown
RNU6-933P,CD6
krumm_15_ASD_discovery_cases-case14409.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CD6,CD5
li_23_ASD/DD_discovery_cases-casePRPF19-3
Sanger sequencing
De novo
CD5,CD6,PRPF19,SLC15A3,VPS37C,TMEM132A,CCDC86,TMEM109,MS4A10,TMEM109-DT,RNU6-933P,PRPF19-DT,PTGDR2,ZP1
prasad_12_ASD_discovery_cases-case72816L
qPCR
Paternal
Multiplex
Not segregated (deletion present in unaffected sibling)
DAGLA
sanders_11_ASD_discovery_cases-11028.p1
Both parents
Simplex (quad-proband matched)
Segregated
MS4A1
sanders_11_ASD_discovery_cases-12901.p1
Unknown
Simplex (quad-proband matched)
Segregated
MS4A1
yin_16_ASD_discovery_cases-case410
Unknown
Unknown
Unknown
RPLP0P2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C28230
SDHAF2
sanders_11_ASD_discovery_controls-11831.s1
Paternal
Simplex (quad)
NA
MS4A13
sanders_11_ASD_discovery_controls-12540.s1
Maternal
Simplex (quad)
NA
MS4A1
No Animal Model Data Available