11q13.3-q13.4CNV Type: Duplication
Largest CNV size: 496749 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
496749
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1145364
0
1
1
leblond_14_ASD_discovery_cases
ASD cases recruited by PARIS (Paris Autism Research International Sibpair) study at specialized centers located in France and Sweden; 85% of cases from simplex ASD families; male-female ratio of 3.6:1.
306
ASD: ADI-R (or DISCO-10), ADOS, DSM-IV-TR; IQ: Wechsler, RPM, PPVT; exclusion criteria: syndromic autism, known cytogenetic abnormalities, Fragile X syndrome
N/A
78.26% Male
1800000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
leblond_14_ASD_discovery_controls
Control samples from France and Sweden; male-female ratio 1.05:1
454
France: healthy volunteers, interviewed with DIGS and FIGS to confirm absence of both personal and family history of psychiatric disorders in first- and second-degress relatives. Sweden: recruited in a study of obesity and body fat distribution; no known personal or family history of ASD
N/A
51.22% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
leblond_14_ASD_discovery_cases
70% Caucasian, 3.6% mixed, 1.3% African, 1.3% Asian, 23.8% unknown
Solid phase hybridization
Illumina Human 1M-Duo BeadChip
QuantiSNP
FISH, qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
leblond_14_ASD_discovery_controls
100% Caucasian
Solid phase hybridization
Illumina Human 1M-Duo BeadChip
QuantiSNP
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gai_11_ASD_discovery_cases-AU1031301
Autism
70520567
71017315
496749
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004959
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71164008
72309374
1145367
GRCh38
Duplication
Yes
leblond_14_ASD_discovery_cases-caseRDB_30769
N/A
M
ASD and ID
Autism, non-verbal, 5th finger clinodactyly, deep-set eyes, strabismus, ptosis, large ears, retrognathia, wide nasal bridge, thin upper lip, oral dyspraxia, slight hypotonia, signs of cerebellar dysfunction (dysmetry and dysdiadochokinesis).
Global developmental delay, severe intellectual disability
70407283
72387844
1980562
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_discovery_cases-AU1031301
Inherited
SHANK2, DHCR7, NADSYN1, KRTAP5-7, KRTAP5-8, KRTAP5-9, KRTAP5-10, KRTAP5-11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004959
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,KRTAP5-14P,OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,ZNF705E,DEFB108B,RNA5SP342,DEFB131B,OR7E128P,OR7E126P,IL18BP,RNU6-72P,MIR3165,ANAPC15,RPEP6,FOLR1,PHOX2A,FLJ42102,NADSYN1,KRTAP5-9,KRTAP5-11,ENPP7P8,FAM86C1,ALG1L9P,DEFB130C,NUMA1,FOLR3,INPPL1,SHANK2,DHCR7,RNF121,LRTOMT,LAMTOR1,FOLR2,CLPB
leblond_14_ASD_discovery_cases-caseRDB_30769
FISH, qPCR
De novo
Simplex
Segregated
SHANK2-AS2,SHANK2-AS3,MIR3664,MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,KRTAP5-14P,OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,ZNF705E,DEFB108B,RNA5SP342,DEFB131B,OR7E128P,OR7E126P,IL18BP,RNU6-72P,MIR3165,ANAPC15,RPEP6,FOLR1,PHOX2A,CTTN,SHANK2-AS1,FLJ42102,NADSYN1,KRTAP5-9,KRTAP5-11,ENPP7P8,FAM86C1,ALG1L9P,DEFB130C,NUMA1,FOLR3,INPPL1,SHANK2,DHCR7,RNF121,LRTOMT,LAMTOR1,FOLR2,CLPB
Controls
No Control Data Available
No Animal Model Data Available