11p14.1CNV Type: Deletion-Duplication
Largest CNV size: 2300000 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
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
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
29828
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
85872
1
0
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
27698
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
12557
4
1
5
shinawi_11_ASD_discovery_cases
Autistic patients (1 male, 1 female)
2
ASD (autistic female met CARS criteria; autistic male met ADI-R and ADOS criteria)
Range, 6 yrs.-19.5 yrs.
50% Male
2300000
1
0
1
shinawi_11_BiP_discovery_cases
Patient diagnosed with bipolar disorder. Father of autistic female in ASD_discovery_case; both have identical 11p14.1 deletion.
1
Bipolar disorder (BiP)
NA
Male
2300000
1
0
1
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
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
404383
4
3
7
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.
34459
1
0
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)
27698
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.
17824
6
4
10
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
qPCR
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
shinawi_11_ASD_discovery_cases
White Caucasian
aCGH
Agilent 4x44K
aCGH (Agilent 244K)
shinawi_11_BiP_discovery_cases
White Caucasian
aCGH
Agilent 4x44K
aCGH (Agilent 244K)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
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
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-caseA210
10 yrs. (born 2004)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: none reported. Family history: mother and brother show autistic features (brother's DNA not available for testing). 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.
Normal IQ
28127349
28157176
29828
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA23
10 yrs. (born 2004)
F
ASD
Diagnosis: early infantile autism. Co-morbidities/additional features: none reported. Family history: autistic father. CNV: called by only one algorithm (iPattern), with no overlapping calls in 2,357 POPGEN and OHI controls, no overlap in DGV.
Cognitive impairment
27589482
27598519
9038
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12461.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
28211061
28296933
85873
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case139373L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
30716676
30744373
27698
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
27567876
27568197
322
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
29132098
29144655
12558
GRCh38
Deletion
No
shinawi_11_ASD_discovery_cases-patient2
19.5 yrs.
F
ASD
Diagnosed with ASD (CARS criteria) at 6 yrs. Met 3 of 4 requirements on ADI-R. No motor or speech delay, mild cognitive impairment. Failure to develop age-appropriate play and inappropriate response to verbal directions noted at 18 mo.. Mild digit stiffness; otherwise normal strength, tone , and reflexes. Additional diagnosis of ADHD (placed on Ritalin, which reduced hyperactivity and improved behavior). Developmental intervention/special education employed. No seizures. Brain MRI/CT not performed. Dysmorphic features: everted lower lip, attached earlobes, short 5th fingers. No congential anomalies. Growth percentiles: 75th OFC, >>97th weight, >97th height. Excessive weight gain in teen years. Normal hearing & vision. Father with CNV diagnosed with bipolar disorder.
Mildly impaired IQ & adaptive skills. Wechsler Preschool and Primary Scale of Intelligence (WPPSI)=61, Vineland Adaptive Behavior Sclaes (VABS) composite=62.
27279397
29612514
2333118
GRCh38
Deletion
Yes
shinawi_11_BiP_discovery_cases-patient3
NA
M
Bipolar disorder (BiP)
Described as moody, diagnosed with bipolar disorder. Growth percentiles: 95th height, >97th weight. Father of child with ASD (shinawi_11_ASD_discovery_cases-patient2).
Learning disabilities, left school at 10th grade.
27279397
29612514
2333118
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
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
N/A
N/A
Control
No previous psychiatric history
29880148
30033063
152916
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB773734_1007873292
N/A
N/A
Control
No previous psychiatric history
29366251
29492760
126510
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
N/A
N/A
Control
No previous psychiatric history
28705017
28762333
57317
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
N/A
N/A
Control
No previous psychiatric history
28338311
28412159
73849
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
28147837
28311854
164018
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900500_900500
N/A
N/A
Control
No previous psychiatric history
27822191
28226574
404384
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900637_900637
N/A
N/A
Control
No previous psychiatric history
30059901
30270629
210729
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27014
Control
28760966
28795424
34459
Unknown
Deletion
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
28620834
28638658
17825
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11881.s1
14.8
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11993.s1
5.8
M
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
27567876
27568197
322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
27567876
27568197
322
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-caseA210
Possibly maternal
Unknown
Possibly multi-generational
Unknown
METTL15
egger_14_ASD_discovery_cases-caseA23
qPCR
Paternal
Paternal
Multi-generational
Possibly segregated
BDNF-AS
krumm_15_ASD_discovery_cases-case12461.p1
1M-Duov3
Maternal
Simplex
Segregated
RN7SKP158,METTL15
prasad_12_ASD_discovery_cases-case139373L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11962.p1
Both parents
Simplex (quad-proband matched)
Not segregated
BDNF-AS
sanders_11_ASD_discovery_cases-11979.p1
Both parents
Simplex (quad-proband matched)
Not segregated
BDNF-AS
sanders_11_ASD_discovery_cases-12006.p1
Unknown
Simplex (quad-proband matched)
Segregated
BDNF-AS
sanders_11_ASD_discovery_cases-12153.p1
Paternal
Simplex (quad-proband matched)
Segregated
BDNF-AS
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
shinawi_11_ASD_discovery_cases-patient2
aCGH (Agilent 244K)
Paternal
Simplex
Unknown
LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,CCDC34,LINC00678,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,METTL15
shinawi_11_BiP_discovery_cases-patient3
aCGH (Agilent 244K)
Unknown
Unknown
NA
LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,CCDC34,LINC00678,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,METTL15
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
Unknown
LINC01616,KCNA4
engchuan_15_ASD_discovery_controls-controlB773734_1007873292
Unknown
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
Unknown
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
Unknown
METTL15
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
RN7SKP158,METTL15
engchuan_15_ASD_discovery_controls-controlHABC_900500_900500
Unknown
HSP90AA2P,MIR610,KIF18A,METTL15
engchuan_15_ASD_discovery_controls-controlHABC_900637_900637
Unknown
FSHB
nord_11_ASD_discovery_controls-04C27014
0 genes
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11720.s1
Maternal
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-11881.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-11962.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-11984.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-11993.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-11999.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-12121.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-12154.s1
Both parents
Simplex (quad)
NA
BDNF-AS
sanders_11_ASD_discovery_controls-12185.s1
Paternal
Simplex (quad)
NA
BDNF-AS
No Animal Model Data Available