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11q13.3-q13.4CNV Type: Duplication


Largest CNV size: 496749 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
NA
Deletion

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
 moreira_16_ASD_discovery_cases
  NA NA
 ASD cases either referred to the Human Genome and Stem-Cell Research Center (HUG-CELL), Sao Paulo (most ascertained at the Institute of Psychiatry, University of Sao Paulo) or ascertained at the Hospital de Base, Faculty of Medicine od Sao Jose do Rio Preto; cohort derived from total of 505 Brazilian patients with idiopathic ASD
 98
 Diagnosis of ASD based on DSM-IV or DSM-V; additional evaluation performed in most cases using CARS and/or ADI-R
 
 
 1260000
 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
 moreira_16_ASD_discovery_controls
  NA NA
 Brazilian control individuals
 200
 Control
 N/A
 N/A
 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
 moreira_16_ASD_discovery_cases
  Brazil
 aCGH
  Agilent custom 6x80K microarray
 ADM-2
 Agilent Feature Extraction. Agilent Genomic Workbench 7.0
 None

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
 
  moreira_16_ASD_discovery_controls
  Brazil
  aCGH
  Agilent custom 6x80K microarray
  ADM-2
  Agilent Feature Extraction. Agilent Genomic Workbench 7.0
 

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
  moreira_16_ASD_discovery_cases-case7
  NA NA
 N/A
 M
 ASD
 Phenotype: syndromic ASD (case presents with dysmorphic features and/or congenital malformations)
 
 69667889
 70896626
  1228738
 GRCh38
 Deletion
 No

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
 
 moreira_16_ASD_discovery_cases-case7
 
 
 Unknown (not paternal)
 Unknown
 
 FGF19,FGF4,RNU6-1175P,ANO1-AS1,H2AFZP4,MIR548K,SHANK2-AS2,SHANK2-AS3,MIR3664,LTO1,FGF3,LINC02584,FADD,PPFIA1,CTTN,SHANK2-AS1,ANO1,SHANK2
 

Controls

No Control Data Available
No Animal Model Data Available
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