9q34.12CNV Type: Deletion
Largest CNV size: 4441 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
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
14623
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
50737
1
0
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
25503
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
4441
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
65246
0
3
3
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
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
bacchelli_20_ASD_discovery_cases-caseAB121
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
131091620
131106242
14623
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-216-1
ASD
132611130
132661866
50737
Unknown
Deletion
No
pinto_14_ASD_discovery_cases2-case9756_201
4 yrs. 7 mos.
M
ASD
Autism (ADI-R and ADOS positive), no language delay (first words 10 mo, first phrases 14 mo), limited language. Family history: N/A.
Leiter-R Brief at 4 y 7 mo: PIQ 80.
130707227
130732729
25503
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
130732729
130737170
4442
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
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
131111595
131150767
39173
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39571A
N/A
M
Control
NIMH Control (NIMH ID 50093)
130693790
130702312
8523
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
131085522
131150767
65246
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB121
qPCR
Unknown
Simplex
AIF1L,LAMC3
nord_11_ASD_discovery_cases-216-1
Paternal
ABL1
pinto_14_ASD_discovery_cases2-case9756_201
qPCR
De novo
Simplex
(not tested)
ABL1
sanders_11_ASD_discovery_cases-13222.p1
Maternal
Simplex (quad-proband matched)
Segregated
ABL1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
RNU6-881P,AIF1L,NUP214
poultney_13_ASD_discovery_controls-control05C39571A
Unknown
EXOSC2
poultney_13_ASD_discovery_controls-control05C44621
Unknown
RNU6-881P,AIF1L,NUP214,LAMC3
No Animal Model Data Available