11q13.5CNV Type: Duplication
Largest CNV size: 25900 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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory ...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
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.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
58219
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
549000
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
1809
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
528956
1
1
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
25900
0
1
1
xu_12_ASD_discovery_cases
Affected male, who was identified as part of a screen for MECP2 CNVs consisting of 53 unrelated male subjects diagnosed with ASD using DSM-IV, and his brother.
2
Diagnosis of ASD/autistic disorder based on meeting ADOS criteria and DSM-IV.
Range, 9 yrs. 5 mos.-18 yrs.
Male
8200
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
75049
0
1
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_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
1809
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1809
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
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.
2772
1
0
1
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
75049
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
xu_12_ASD_discovery_cases
Chinese Han
aCGH
Agilent SurePrint G3 Human CGH Microarray 1x1M
Genomic Workbench Lite Edition 6.5
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
engchuan_15_ASD_discovery_cases-case6100_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76174277
76232496
58220
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14226.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
75581307
76131308
550002
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13148.p1
N/A
M
ASD
ASD proband from SSC quad family 13148. SRS score of 78.
Full-scale IQ (FSIQ) score of 52.
77243693
77245502
1810
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13148.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
77243693
77245502
1810
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14226.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
75587058
76116015
528958
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-NA0032-000
NA
M
ASD
NA
NA
76725908
76751808
25901
GRCh38
Duplication
Yes
xu_12_ASD_discovery_cases-patient01B
18 yrs.
M
ASD
ADOS score well above cutoff for autistic disorder. ADOS scores: communication, 5; social interaction, 12; combined, 17. Bayley Scales of Infant Development-3 scores: developmental age, 6 months; receptive language, 11 months; expressive language, 5 months; fine motor, 12 months; gross motor, 15 months. Developmental milestones: learned to walk at 20 months. Language and communication evaluation: no language; able to passively understand simple phraases as spoken by mother. Motor and musculoskeletal evaluation: walked and ran slightly unsteadily; liked to walk on toes; unable to jump with both feet off the floor. Behavioral/psychiatric evaluation: stayed in room alone at all times other than meal times; liked to look at cars on the street and was very excited by wheels; put hands to mouth and laughed loudly when happy; frequent hand-flapping; did nto engage in interaction with others, but laughed often. Epilepsy/seizures: no history. Brain imaging: no obvious abnormalities on previous CT scan. Dysmorphic features: depressed nasal bridge, midface hypoplasia. Other features: no history of respiratory infections or other major medical treatments. Growth parameters: normal height & weight. Family history: healthy, non-consanguineous parents; mother had slightly higher scores in somatization, depression, anxiety and psychoticism on completing Symptom Checklist-90; younger brother with autism/autistic disorder; sister who died one month after birth following premature borth and poor feeding (DNA sample N/A).
Weschler Intelligence Scale scores: verbal IQ <36, performance IQ <14, full-scale IQ <24.
NA
NA
8200
GRCh37
Deletion
No
yin_16_ASD_discovery_cases-case412
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
77102549
77177597
75049
GRCh38
Duplication
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_13_ASD_discovery_controls-control13148.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13148. SRS score of 51.
77243693
77245502
1810
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13148.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
77243693
77245502
1810
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
76626137
76628909
2773
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case6100_4
Unknown
WNT11
girirajan_13a_ASD_discovery_cases-14226.p1
Unknown
Simplex
Unknown
RN7SL786P,PPP1R1AP1,RNA5SP344,MOGAT2,UVRAG-DT,MAP6,DGAT2,UVRAG
krumm_13_ASD_discovery_cases-case13148.p1
Maternal
Simplex
Not segregated
GDPD4
krumm_15_ASD_discovery_cases-case13148.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GDPD4
krumm_15_ASD_discovery_cases-case14226.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RN7SL786P,PPP1R1AP1,RNA5SP344,MOGAT2,UVRAG-DT,MAP6,DGAT2,UVRAG
marshall_08_ASD_discovery_cases-NA0032-000
qPCR, qmPCR
Unknown
NA
NA
xu_12_ASD_discovery_cases-patient01B
Paternal
Multiplex
Not segregated
GDPD4
yin_16_ASD_discovery_cases-case412
Unknown
Unknown
Unknown
OMP,CAPN5,MYO7A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control13148.s1
Maternal
Simplex
GDPD4
krumm_15_ASD_discovery_controls-control13148.s1
1M-Duov3
Maternal
GDPD4
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available