15q25.2-q26.1CNV Type: Deletion
Largest CNV size: 6980000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion within this region was identified in a 4-year-old male proband presenting with high-functioning ASD from a cohort of 258 Chinese ASD probands (Mak et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
6980000
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
mak_17_ASD_discovery_cases-case1
4 yrs.
M
ASD
High-functioning ASD
83973494
91082989
7109496
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
mak_17_ASD_discovery_cases-case1
De novo
DNM1P41,RN7SL331P,GOLGA6L4,UBE2Q2P8,RN7SL417P,CSPG4P5,UBE2Q2P11,EGLN1P1,RNU6-339P,RNU6-796P,NIFKP8,RN7SL428P,MIR7706,RNU7-79P,RNU6-1280P,MIR1276,RNU6-231P,MIR548AP,RNA5SP400,RNU6-185P,LINC00052,MED28P6,MRPL46,MIR1179,MIR7-2,MIR3529,AEN,KRT18P47,RNU7-195P,HMGB1P8,MIR6766,MIR9-3,RPL36AP43,RNU6-132P,MESP1,MRPL15P1,MIR5094,MIR5009,RNU6-1111P,RNU7-111P,MIR3174,RN7SL346P,RPS12P26,CIB1,RN7SL736P,GABARAPL3,NDUFA3P4,HSPE1P3,LINC01585,RN7SL363P,FES,RCCD1,EFL1P1,UBE2Q2L,CSPG4P11,GOLGA2P7,UBE2Q2P12,GOLGA6L5P,LINC00933,ZSCAN2,SCAND2P,WDR73,NMB,ALPK3,GOLGA6L3,KLHL25,AGBL1-AS1,NTRK3-AS1,DET1,ISG20,HAPLN3,MFGE8,RLBP1,POLG,RHCG,TICRR,PLIN1,PEX11A,WDR93,MESP2,ANPEP,AP3S2,ARPIN,ZNF710-AS1,IDH2,IDH2-DT,GDPGP1,TTLL13P,NGRN,GOLGA2P8,ZNF774,BLM,FURIN,MAN2A2,HDDC3,UNC45A,PRC1,PRC1-AS1,VPS33B,VPS33B-DT,DNM1P51,UBE2Q2P1,SEC11A,ZNF592,PDE8A,CSPG4P12,ADAMTS7P4,AKAP13,LINC01584,AGBL1,MRPS11,LINC01586,ACAN,FANCI,MIR9-3HG,LINC00928,KIF7,ZNF710,IQGAP1,CRTC3,CRTC3-AS1,SLC28A1,NTRK3,ABHD2,SEMA4B,ADAMTSL3
Controls
No Control Data Available
No Animal Model Data Available