10p15.3-p15.2CNV Type: Duplication
Largest CNV size: 1103959 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
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.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
descipio_12_DD/ID_discovery_cases
Unrelated probands with molecularly characterized overlapping deletions within the 10p15.3 region.
19
Most common diagnosis: developmental delay/intellectual disability (DD/ID). Two cases with ADHD, one case with autism.
Range, 15 mos.-48 yrs.
52.63% Male
3706088
2
0
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1386124
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
3476245
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
45000
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
1248544
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
1103959
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1386124
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1030165
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
545802
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
descipio_12_DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Affymetrix 6.0, Agilent custom-designed CGH, Agilent 44K, Genome DX V3 150K, BACs aCGH, Signature Genomics 105K v1.0, Signature Genomics 135K v2.0, Agilent 244K, Cytosure ISCA 180K, Agilent ISCA 180K
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
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
descipio_12_DD/ID_discovery_cases-proband18
48 yrs.
M
Intellectual disability
Birth weight: 3rd %ile. Cognitive/behavioral/developmental differences: Moderate ID. Speech delay/language disorder: Yes. Motor delay: Yes. Craniofacial dysmorphism: Yes. Brain abnormalities: Cortical atrophy and pachygyria, right hemisphere. Hypotonia: Yes. Hand and/or foot anomalies: Unknown. Seizures: Grand mal, absence, tonic. Cardiac anomalies: Unknown. Other features: Mild left hemi-paresis since birth, current spastic quadri-plegia. Growth parameters: height, 5th-10th %ile; weight, >97th %ile; head circumference, >97th %ile.
Moderate intellectual disability
70889
3780725
3709837
GRCh38
Deletion
No
descipio_12_DD/ID_discovery_cases-proband8
3 yrs.
M
Developmental delay
Delayed motor skills, hypotonia
Developmental delay
90421
3058742
2968322
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si45
9
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
1865557
3251683
1386127
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D2711
1 mo. 20 days
M
Developmental delay
Facial abnormalites
54086
3530330
3476245
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1139Proband10788
N/A
M
ASD
Additional clinical profile info N/A
ID
2638872
3091456
452585
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case23777
NA
NA
ASD
NA
NA
1877644
3126188
1248544
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
1940333
3044294
1103962
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
guo_17_ASD_discovery_controls-controlPY1396
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
2199317
3229483
1030167
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
2589326
3135128
545803
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
descipio_12_DD/ID_discovery_cases-proband18
Unknown (not maternal)
Simplex
Segregated (deletion not in normal brother)
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,DIP2C,PRR26,LARP4B,ADARB2,IDI1,PITRM1,PITRM1-AS1
descipio_12_DD/ID_discovery_cases-proband8
Unknown
Unknown
Unknown
RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,DIP2C,PRR26,LARP4B,ADARB2,IDI1
girirajan_11_ASD_discovery_cases-Si45
Unknown
Simplex
LINC00700,MIR6072,RNU6-889P,RNU6-576P,LINC00701,PFKP,PITRM1,PITRM1-AS1
han_22_ASD/DD/ID_discovery_cases-case15D2711
De novo
ADARB2,IDI2-AS1,IDI2,IDI1,LINC00700,TUBB8,LINC00701,LINC00200,IL9RP2,DIP2C-AS1,ADARB2-AS1,PITRM1-AS1,MIR5699,LINC02669,PFKP-DT,PFKP,MIR6072,LINC02645,LINC02668,LINC02662,RNA5SP297,RNU6-889P,RNU6-576P,RN7SL754P,RNA5SP298,PITRM1,WDR37,ZMYND11,GTPBP4,DIP2C,LARP4B
nava_13_ASD_discovery_cases-Fam1139Proband10788
Unknown
Simplex
Unknown
PFKP
rosenfeld_10_ASD_discovery_cases-case23777
FISH
Unknown
Unknown
Unknown
PFKP
sanders_11_ASD_discovery_cases-12066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LINC00700,MIR6072,RNU6-889P,RNU6-576P,LINC00701
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_17_ASD_discovery_controls-controlPY1396
qPCR
Unknown
RNU6-576P,LINC00701,PFKP,PITRM1,PITRM1-AS1
sanders_11_ASD_discovery_controls-13144.s1
Maternal
Simplex (quad)
NA
PFKP
No Animal Model Data Available