6q12-q13CNV Type: Duplication
Largest CNV size: 348144 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Minor Reports
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
3834591
0
1
1
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
10377629
2
0
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
348144
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
3834592
0
1
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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-case18133_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68773816
72608571
3834756
GRCh38
Duplication
Yes
engwerda_18_ASD/DD/ID_discovery_cases-caseId057
N/A
N/A
N/A
Clinical profile N/A (individual did not present with developmental delay, ASD, connective tissue disorders, or heart defects)
Normal (IQ > 85)
64019984
74397790
10377807
GRCh38
Deletion
No
engwerda_18_ASD/DD/ID_discovery_cases-caseId065
N/A
N/A
ASD, developmental delay, and intellectual disability
Case presents with developmental delay and ASD
Moderate intellectual disability (IQ 30-50)
63662856
73350016
9687161
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0225-004
NA
M
ASD
NA
NA
69163287
69511430
348144
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case18133_302
N/A
M
ASD
Autism (based on ADI-R and ADOS), single words at 22 mo, no phrases at 8 y 10 mo (age at ADI), language regression at 30 mo, duration of loss 24 mo, definite loss of social engagement/responsiveness skills at 27 mo; sensory abnormalities, hand/finger mannerisms, stereotyped body movements, odd gait (toe-walking, touching foot to leg with each step), physical aggression toward others, slight/occasional self-injury, no evidence of seizures (AGRE ID: AU2117302). Family history: mother with bipolar disorder; father with language delay (no words until 3 yo), possible Asperger syndrome but no testing done; two siblings, not tested for CNV [unaffected brother who had articulation problems and speech/language therapy and an unaffected dizygotic twin sister, who was evaluated with ADI-R and ADOS for research study (both were negative)].
Stanford Binet VIQ 43, NVIQ 42, FSIQ 40; PPVT 20 (receptive vocabulary functioning extremely low)
68773816
72608571
3834756
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case18133_302
De novo
NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,ADGRB3,COL9A1,OGFRL1,RIMS1
engwerda_18_ASD/DD/ID_discovery_cases-caseId057
No validation reported
De novo
HNRNPDP2,SLC25A51P1,ADH5P4,NUFIP1P,RNU7-66P,RNA5SP208,RNU6-280P,NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,LINC02549,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,CD109,EYS,ADGRB3,COL9A1,OGFRL1,RIMS1,DDX43
engwerda_18_ASD/DD/ID_discovery_cases-caseId065
No validation reported
Unknown
GCNT1P4,HNRNPDP2,SLC25A51P1,ADH5P4,NUFIP1P,RNU7-66P,RNA5SP208,RNU6-280P,NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,PHF3,LINC02549,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,EYS,ADGRB3,COL9A1,OGFRL1,RIMS1
marshall_08_ASD_discovery_cases-MM0225-004
qPCR, qmPCR
Unknown
NA
NA
ADGRB3
pinto_14_ASD_discovery_cases2-case18133_302
qPCR
De novo
Simplex
(not tested)
NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,ADGRB3,COL9A1,OGFRL1,RIMS1
Controls
No Control Data Available
No Animal Model Data Available