15q24.1-q24.3CNV Type: Duplication
Largest CNV size: 3806790 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A duplication of unknown origin in the 15q24.1-q24.3 locus was identified in a schizophrenia proband in Kushima et al., 2018.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
3806790
0
1
1
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
3806791
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2150000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
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
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
kushima_18_SCZ_discovery_cases-caseSCZ0622
72 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
74071509
77878298
3806790
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ0622
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
74071508
77878298
3806791
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530564
F
Developmental delay and intellectual disability
Global developmental delay (HP:0001263)
Intellectual disability (HP:0001249).
74189865
76339864
2150000
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
kushima_18_SCZ_discovery_cases-caseSCZ0622
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,UBL7,SCAPER,PTPN9
kushima_22_SCZ_discovery_cases-caseSCZ0622
qRT-PCR
Unknown
CLK3,ETFA,CYP1A2,CYP11A1,CSK,CYP1A1,CSPG4,SCAPER,IMP3,COMMD4,RPP25,PPCDC,C15orf39,FAM219B,ISLR2,ISL2,NEIL1,PEAK1,STRA6,LMAN1L,EDC3,CCDC33,UBE2Q2,UBL7,LINGO1,TMEM266,NRG4,ODF3L1,SCAMP5,ISLR,LINGO1-AS1,SNX33,GOLGA6A,KRT8P23,PPIAP47,RPL36AP45,UBL7-DT,CPLX3,ANP32BP1,GOLGA6D,MIR631,GOLGA6C,RPL13P4,DNM1P34,PPIAP46,COMMD4P2,DNM1P49,NIFKP4,DNM1P35,MPI,MAN2C1,MIR3713,MIR4313,MIR4513,PTPN9,RCN2,LINGO1-AS2,MIR6882,MIR6881,LINC02255,RN7SL278P,RN7SL429P,RN7SL319P,RN7SKP217,TYRO3P,RN7SL510P,RN7SL489P,RN7SL327P,SEMA7A,SNUPN,TSPAN3,SCAMP2,COX5A,PSTPIP1,ARID3B,HMG20A,ULK3,SIN3A,FBXO22
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530564
Unknown
CLK3,ETFA,CYP1A2,CYP11A1,CSK,CYP1A1,CSPG4,IMP3,COMMD4,RPP25,PPCDC,C15orf39,FAM219B,ISL2,NEIL1,STRA6,LMAN1L,EDC3,CCDC33,UBE2Q2,UBL7,TMEM266,NRG4,ODF3L1,SCAMP5,SNX33,PPIAP47,RPL36AP45,UBL7-DT,CPLX3,ANP32BP1,GOLGA6D,MIR631,GOLGA6C,RPL13P4,DNM1P34,PPIAP46,DNM1P49,NIFKP4,DNM1P35,MPI,MAN2C1,MIR4313,MIR4513,PTPN9,MIR6882,MIR6881,LINC02255,RN7SL319P,TYRO3P,RN7SL510P,RN7SL489P,RN7SL327P,SEMA7A,SNUPN,SCAMP2,COX5A,ARID3B,ULK3,SIN3A,FBXO22
Controls
No Control Data Available
No Animal Model Data Available