15q13CNV Type: Duplication
Largest CNV size: 3800000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Duplications within the 15q13 region were identified that include the CHRNA7 gene.
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.
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
3800000
0
2
2
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
490000
0
2
2
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-case16144
NA
ASD
NA
NA
490000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_cases-case44813
8
M
High-functioning autism
NA
IQ NA
26999744
30796716
3800000
Unknown
Duplication
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_1050
NA
Control
NA
NA
490000
Unknown
Duplication
Yes
guilmatre_09_ASD_discovery_controls-control_1067
NA
Control
NA
NA
490000
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-case16144
QMPSF, aCGH, or FISH
Unknown
NA
NA
CHRNA7
guilmatre_09_ASD_discovery_cases-case44813
QMPSF, aCGH, or FISH
Maternal
NA
NA
APBA2, CHRNA7, 16 other genes
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guilmatre_09_ASD_discovery_controls-control_1050
QMPSF, aCGH, or FISH
Unknown
NA
NA
CHRNA7
guilmatre_09_ASD_discovery_controls-control_1067
QMPSF, aCGH, or FISH
Unknown
NA
NA
CHRNA7
No Animal Model Data Available