22q11CNV Type: Deletion-Duplication
Largest CNV size: 350000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
CNVs at this locus contain at least part of the PRODH and DGCR6 genes and potentially include significant portions of the DiGeorge Syndrome region (22q11.21). However, the precise breakpoints of these CNVs were not provided.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guilmatre_09_ASD_discovery_cases
ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
260
257 cases with autism, 3 cases with Aspberger syndrome
11.8
80.5% Male
350000
9
4
13
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guilmatre_09_ASD_discovery_controls
Controls
236
Controls
39.5
43.8% Male
350000
1
6
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guilmatre_09_ASD_discovery_cases
France (231), Italy (29)
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
QMPSF, aCGH, FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guilmatre_09_ASD_discovery_controls
Northwestern France
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
QMPSF, aCGH, FISH
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guilmatre_09_ASD_discovery_cases-case12452
8
F
ASD
NA
IQ<40
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case12746
6
M
High-functioning autism
NA
IQ 74
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case13899
11
M
ASD
NA
IQ<40
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case44544
NA
ASD
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_cases-case44737
7
M
ASD
NA
IQ<40
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case44743
NA
ASD
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_cases-case44822
NA
ASD
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_cases-case45435
31
F
ASD
NA
IQ<40
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case45856
38
M
ASD
NA
IQ<40
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case46261
11
F
ASD
NA
IQ NA
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case46658
NA
ASD
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_cases-case47766
8
M
ASD
NA
IQ NA
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-caseSi30
5
F
ASD
Dysmorphism, epilepsy
IQ<40
350000
Unknown
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guilmatre_09_ASD_discovery_controls-control_011/003
84
F
Control
NA
NA
350000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_controls-control_1003
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_1060
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_1069
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_1136
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_1182
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_292/002
NA
Control
NA
NA
350000
Unknown
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guilmatre_09_ASD_discovery_cases-case12452
QMPSF, aCGH, or FISH
Paternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case12746
QMPSF, aCGH, or FISH
Paternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case13899
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case44544
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case44737
QMPSF, aCGH, or FISH
Paternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case44743
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case44822
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case45435
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case45856
QMPSF, aCGH, or FISH
Maternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case46261
QMPSF, aCGH, or FISH
Paternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case46658
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-case47766
QMPSF, aCGH, or FISH
Paternal
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_cases-caseSi30
QMPSF, aCGH, or FISH
Maternal
NA
NA
PRODH, DGCR6
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guilmatre_09_ASD_discovery_controls-control_011/003
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_1003
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_1060
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_1069
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_1136
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_1182
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
guilmatre_09_ASD_discovery_controls-control_292/002
QMPSF, aCGH, or FISH
Unknown
NA
NA
PRODH, DGCR6
No Animal Model Data Available