10p15.2CNV Type: Deletion
Largest CNV size: 4042 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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
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
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
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
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
58734
2
0
2
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1204831
1
0
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
1380
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
87819
1
1
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
220000
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
91110
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
4042
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
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1204831
0
0
0
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
74544
0
1
1
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
53451
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
87819
1
2
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
318954
3
2
5
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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)
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
engchuan_15_ASD_discovery_cases-case3263_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3135112
3193846
58735
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4266_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3363335
3402297
38963
GRCh38
Deletion
No
griswold_12_ASD_discovery_cases-case7854
NA
NA
PDD-NOS
NA
NA
1127730
2336307
1208578
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11622.p1
N/A
M
ASD
ASD proband from SSC quad family 11622. SRS score of 90.
Full-scale IQ (FSIQ) score of 97.
3133202
3134582
1381
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13844.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3082387
3170206
87820
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14169.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3082387
3170206
87820
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-caseEA85
NA
F
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 87, performance IQ 87 (at 7 years of age).
3207944
3427669
219726
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case13844.p1
99 mos.
M
Autism
Case also identified to have de novo CHD8 truncating and de novo CUBN truncating mutations, and de novo TRAPPC8 synonymous mutation. Clinical range deficits in social responsiveness (120). Possible loss of language skills during development and elevated social withdrawal behaviors with no comorbid diagnoses. Food allergies (gluten and casein). Gastrointestinal constipation diagnosis with bloating and abdominal pain. Roseola diagnosed at 2.5 years and Epstein bar virus contracted at 8 years. Respiratory problems diagnosed at 11 months and kidney problems diagnosed at 9 months. No diagnosis of cardiac or metabolic syndromes noted. No report of congenital anomalies. NICU admission shortly after birth with oxygen treatment. Meconium aspiration at birth. Currently on GFCF diet. Took asthma medication in the past but not currently. Growth parameters: large head (z = 2.62), normal BMI. Family history: father with normative range of social responsiveness, but elevated score for rigidity on broader autism phenotype, some signs of alcoholism; mother currently taking thyroid medication and antidepressant (not taken during pregnancy); older sibling with behavioral elevations for somatic problems and complaints, cognitive decline following Ebstein-Barr virus reported by parents; maternal cousin with Down syndrome; family history for migraines among several members.
Extremely low VIQ (20), NVIQ (34), and adaptive (59) scores.
3081669
3172779
91111
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
3261686
3265728
4043
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
kanduri_15_ASD_discovery_controls-control_split1408
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
3288594
3363137
74544
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13144.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13144. SRS score of 53.
3082387
3135838
53452
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12060.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3112221
3170206
57986
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13144.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3067595
3136579
68985
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14169.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3082387
3170206
87820
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
3265033
3268374
3342
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
3111011
3188145
77135
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
3262682
3265728
3047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
3186267
3345786
159520
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
3353024
3671978
318955
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case3263_3
Unknown
PFKP,PITRM1,PITRM1-AS1
engchuan_15_ASD_discovery_cases-case4266_1
Unknown
griswold_12_ASD_discovery_cases-case7854
qPCR
Paternal
Simplex
Segregated
LINC00700,MIR6072,RNU6-889P,RNU6-576P,WDR37,LINC00200,ADARB2-AS1,LINC00701,ADARB2
krumm_13_ASD_discovery_cases-case11622.p1
Paternal
Simplex
Segregated
PFKP
krumm_15_ASD_discovery_cases-case13844.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PFKP,PITRM1,PITRM1-AS1
krumm_15_ASD_discovery_cases-case14169.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PFKP,PITRM1,PITRM1-AS1
lesca_12_EP_discovery_cases-caseEA85
Unknown
Unknown
Unknown
o'roak_12_ASD_discovery_cases-case13844.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
PFKP,PITRM1,PITRM1-AS1
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1408
Unknown
Intergenic CNV: nearest genes, PITRM1(dist=73561),KLF6(dist=455051)
krumm_13_ASD_discovery_controls-control13144.s1
Maternal
Simplex
PFKP
krumm_15_ASD_discovery_controls-control12060.s1
Illumina 1MDuo
Maternal
PFKP,PITRM1,PITRM1-AS1
krumm_15_ASD_discovery_controls-control13144.s1
Illumina 1MDuo
Maternal
PFKP
krumm_15_ASD_discovery_controls-control14169.s1
Omni2.5-4v1
Paternal
PFKP,PITRM1,PITRM1-AS1
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Maternal
Simplex (quad)
NA
PFKP,PITRM1,PITRM1-AS1
sanders_11_ASD_discovery_controls-12083.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12321.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12321.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available