8q12.3-q13.3CNV Type: Deletion
Largest CNV size: 8100000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 8.1 Mb 8q12.3-q13.3 deletion was identified in a female proband from a cohort of 1015 cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID) (DiGregorio et al., 2017).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
8100000
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
9999745
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_314103
N/A
F
Developmental delay/intellectual disability
64008628
72107629
8099002
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case16D1314
17 mos.
F
Developmental delay
Cerebral dysplasia
61627390
71627134
9999745
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_314103
qPCR
De novo
COX6CP8,MIR124-2HG,MIR124-2,BHLHE22,RPL31P41,PPIAP86,CRH,LINC00967,RRS1,RNU6-1324P,PTTG3P,SNHG6,SNORD87,RNA5SP268,NACAP10,NDUFS5P6,RPL31P40,RPS15AP25,RNA5SP269,RNU7-102P,RN7SKP29,RN7SL675P,RNA5SP270,SUMO2P20,RNU1-101P,H2AFZP2,BTF3P12,RNY3P14,RN7SL203P,RN7SL19P,TRAPPC2P2,RPS20P20,LINC00251,ARMC1,TRIM55,RRS1-AS1,VXN,VCPIP1,C8orf44,MCMDC2,TCF24,COPS5,C8orf34-AS1,LINC01603,SDCBPP2,PRDM14,TRAM1,MSC,TRPA1,CYP7B1,LINC01299,MTFR1,PDE7A,ADHFE1,MYBL1,SGK3,PPP1R42,ARFGEF1,CPA6,C8orf34,LINC01592,SULF1,SLCO5A1,LACTB2-AS1,LACTB2,XKR9,MSC-AS1,DNAJC5B,PREX2,NCOA2,EYA1,CSPP1
han_22_ASD/DD/ID_discovery_cases-case16D1314
De novo
ASPH,CRH,EYA1,TRAPPC2P2,BHLHE22,LACTB2,ARMC1,C8orf44,CPA6,CSPP1,PRDM14,SLCO5A1,PREX2,VCPIP1,DNAJC5B,TRIM55,C8orf34,ADHFE1,MCMDC2,VXN,YTHDF3,NKAIN3,LACTB2-AS1,PPP1R42,LINC01289,LINC01299,C8orf34-AS1,H2AZP2,XKR9,MIR124-2,SNORD87,SNHG6,IFITM8P,LINC00251,BTF3P12,RPS15AP25,MIR124-2HG,SDCBPP2,TARDBPP4,TCF24,MYBL1,NACAP10,RPL31P41,RPL31P40,NARS1P2,SRPK2P,LINC00967,LINC01592,XRCC6P4,RRS1-DT,LINC01603,C8orf44-SGK3,RNA5SP270,RNA5SP269,RNA5SP268,MIR4470,YTHDF3-DT,SUMO2P20,PDE7A,LINC02842,LINC01414,ARFGEF1-DT,RNU7-102P,RN7SL203P,TTPA,RNY3P14,RN7SL19P,RNU6-1324P,RNU1-101P,RN7SL675P,RN7SKP135,RN7SKP97,RN7SKP29,NDUFS5P6,RN7SL135P,C1GALT1P3,COX6CP8,PPIAP86,LINC02155,GGH,PDE7A-DT,SLCO5A1-AS1,MTFR1,CYP7B1,COPS5,NCOA2,ARFGEF1,PTTG3P,RRS1,SGK3,SULF1,TRAM1
Controls
No Control Data Available
No Animal Model Data Available