12q21.31-q21.33CNV Type: Deletion
Largest CNV size: 6220000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A paternally-inherited deletion within this locus was identified in a female patient with intellectual disability; however, this deletion was not identified in the patient's mother, who also presented with intellectual disability (Chong et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
6220000
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
3060234
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3704
N/A
F
Intellectual disability
Intellectual disability, dysmorphic features. Family history: mother and sister with similar phenotype.
Intellectual disability
84549050
90769572
6220523
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0945
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
85628769
88689002
3060234
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3704
Nimblegen aCGH
Paternal
Multi-generational (mother and sister with similar phenotype)
Not segregated
NTS,RPL23AP68,CYCSP30,MKRN9P,RNA5SP364,RNU1-117P,RNU7-120P,MRPS6P4,DUSP6,CENPCP1,ATP2B1-AS1,RNA5SP365,MRPL2P1,RNU6-148P,BRWD1P2,SLC6A15,TSPAN19,ALX1,RASSF9,LINC02258,C12orf50,C12orf29,TMTC3,KITLG,LINC02458,POC1B-AS1,LINC02399,LINC02392,LRRIQ1,RPS4XP15,POC1B,GALNT4,POC1B-GALNT4,ATP2B1,MGAT4C,CEP290
kushima_22_ASD_discovery_cases-caseASD0945
qRT-PCR
Unknown
CEP290,C12orf29,CYCSP30,TMTC3,C12orf50,MKRN9P,RPL23AP68,RPS4XP15,NTS,KITLG,RNA5SP364,RNU1-117P,LINC02258,RASSF9,MGAT4C
Controls
No Control Data Available
No Animal Model Data Available