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3q27.2CNV Type: Deletion-Duplication


Largest CNV size: 117906 bp

Statistics Box:
Number of Reports: 5



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major 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
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 117906
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 255000
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 48487
 0
 1
 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
 9868
 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
 114308
 3
 1
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 9868
 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.
 
 36899
 1
 1
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 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
 
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  levy_11_ASD_discovery_cases-12339.p1
 NA
 M
 ASD
 NA
 NA
 185894863
 186012767
  117905
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown154
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 185151277
 185406876
  255600
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case18116_302
 N/A
 M
 ASD
 Autism (based on ADI-R and ADOS), language delay (first words 48 mo, first phrases 66 mo); odd gait (bouncing walk), significant aggression toward others, slight self-injury, EEG borderline abnormal, no reports of seizures (AGRE ID: AU2071302). Family history: mother had articulation problems; no other parent information.
 PPVT 72; Stanford Binet: VIQ 52, NVIQ 86, FSIQ 67
 185064414
 185112900
  48487
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case59997L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 186386887
 186396754
  9868
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11977.p1
 10.2
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
 185386490
 185406819
  20330
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 185386490
 185390155
  3666
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 185895484
 186009791
  114308
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 185355198
 185373031
  17834
 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
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  185847935
  185867083
  19149
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  185369920
  185406819
  36900
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 levy_11_ASD_discovery_cases-12339.p1
 
 
 De novo
 Simplex
 Segregated
 TRA2B,NMRAL2P
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown154
 
 
 Maternal
 Unknown
 Unknown
 EIF2S2P2,MIR5588,C3orf70,EHHADH-AS1,EHHADH,MAP3K13
 
 pinto_14_ASD_discovery_cases2-case18116_302
 qPCR
 
 Unknown (not maternal, father no DNA)
 Multiplex
 Not segregated (no CNV in affected sibling)
 C3orf70
 
 prasad_12_ASD_discovery_cases-case59997L
 
 
 Unknown
 Unknown
 Unknown
 EHHADH
 
 sanders_11_ASD_discovery_cases-11977.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MAP3K13
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MAP3K13
 
 sanders_11_ASD_discovery_cases-12339.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 TRA2B,NMRAL2P
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MAP3K13
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MAP3K13
 

No Animal Model Data Available
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