12p12.3-p11.22CNV Type: Deletion
Largest CNV size: 12982532 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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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.
14941575
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
11686884
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
12974587
1
0
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
12982532
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
girirajan_11_ASD_discovery_cases-Si159
14
F
Autism
ADOS score: 6. Vineland composite score: 55.
Severe mental retardation/intellectual disability. Full-scale IQ, 28; Verbal IQ, 19; Non-verbal IQ, 32.
14991967
29933543
14941577
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12184.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18081190
29768075
11686886
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12184.p1
NA
F
ASD
NA
NA
16863326
29837913
12974588
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
16862333
29844866
12982534
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
girirajan_11_ASD_discovery_cases-Si159
De novo
Simplex
LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,CASC1
krumm_15_ASD_discovery_cases-case12184.p1
Illumina 1MDuo
De novo
Simplex
Segregated
NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,CASC1
levy_11_ASD_discovery_cases-12184.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,CASC1
sanders_11_ASD_discovery_cases-12184.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,CASC1
Controls
No Control Data Available
No Animal Model Data Available