Xp22.32-p22.31CNV Type: Deletion-Duplication
Largest CNV size: 2700000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
3695876
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
105201
0
1
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
105201
0
2
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
107094
0
1
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
2700000
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guo_17_ASD_discovery_cases-caseM15199
N/A
M
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
4553987
8249862
3695876
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD1273
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
6050004
6155204
105201
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1143
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6050004
6155204
105201
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1950
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6050004
6155204
105201
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0086
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6048195
6155288
107094
GRCh38
Duplication
Yes
willemsen_12_DD/ID_discovery_cases-case22
M
Intellectual disability
Hypotonia, nasal lacrimal duct anomaly
Intellectual disability
5961959
6481959
520001
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case5
M
ASD and developmental delay
Micropenis, ichthyosis
Developmental delay
5271959
7981959
2710001
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_17_ASD_discovery_cases-caseM15199
qPCR
De novo
MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,NLGN4X,PUDP,STS
kushima_22_ASD_discovery_cases-caseASD1273
qRT-PCR
Unknown
NLGN4X
kushima_22_BPD_discovery_cases-caseBD1143
qRT-PCR
Unknown
NLGN4X
kushima_22_BPD_discovery_cases-caseBD1950
qRT-PCR
Unknown
NLGN4X
kushima_22_SCZ_discovery_cases-caseSCZ0086
qRT-PCR
Unknown
NLGN4X
willemsen_12_DD/ID_discovery_cases-case22
Maternal+ Grandparental
MIR4770,NLGN4X
willemsen_12_DD/ID_discovery_cases-case5
Maternal
MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,PNPLA4,NLGN4X,PUDP,STS
Controls
No Control Data Available
No Animal Model Data Available