8p11.22-q11.23CNV Type: Duplication
Largest CNV size: 13800000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 8p11.22-q11.23 duplication was identified in in a 5-year-old Lithuanian male presenting with developmental delay, short stature, and hypoplasia of the corpus callosum (Egle et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
13800000
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
12049217
0
3
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
egle_16_DD/ID_discovery_cases-case9_1
5 yrs.
M
Developmental delay
Short stature, hypoplasia of the corpus callosum
Developmental delay
39558979
52271947
12712969
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case241
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
39771466
51820682
12049217
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case248
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
39787022
51820682
12033661
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case37
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
39787022
51820682
12033661
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egle_16_DD/ID_discovery_cases-case9_1
FISH or RT-PCR
De novo
TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,HSPA8P13,ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,RNU6-665P,CEBPD,RNU6-519P,RNU6-295P,RNA5SP531,RPL29P19,LINC02599,SNAI2,RN7SKP294,RFPL4AP7,PSAT1P1,CYCSP22,BRIX1P1,BTF3P1,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,ASNSP1,LINC00293,MAPK6P4,UBE2V2,EFCAB1,PPDPFL,PCMTD1,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,TRIM60P15,SPIDR,PRKDC,MCM4,ZMAT4,HOOK3,PXDNL,ST18,KAT6A,SNTG1
mahjani_21_ASD_discovery_cases-case241
Unknown
CEBPD,CHRNB3,BTF3P1,ANK1,FNTA,DKK4,GOLGA7,THAP1,SNTG1,TCIM,ZMAT4,POMK,RNF170,GINS4,HOOK3,SMIM19,PCMTD1,GPAT4,PSAT1P1,PXDNL,HGSNAT,IDO2,NKX6-3,IDO1,ADAM2,IKBKB,RPL10AP2,POTEA,MAPK6P4,CYCSP22,AFG3L2P1,ASNSP1,KRT18P37,RPL29P19,PPDPFL,MIR486-1,RPS29P2,LINC00293,IDI1P2,ATP6V1G1P2,MCM4,VN1R46P,RPL5P23,NDUFA5P12,ASNSP4,RFPL4AP7,TRIM60P15,BRIX1P1,MIR4469,MIR548AO,MTND1P7,SNX18P27,IGLV8OR8-1,PRKDC,PLAT,POLB,IKBKB-DT,MIR486-2,GPAT4-AS1,LINC02847,RN7SKP32,MTND6P20,LINC02866,RN7SKP294,SLC20A2,SNAI2,UBE2V2,VDAC3,SFRP1,RNU6-104P,RN7SL806P,RNU6-519P,RNU6-895P,RNU6-656P,RNU6-356P,RNU6-819P,RNU6-665P,HSPA8P13,CYP4F44P,RN7SL149P,RNU6-295P,MTND2P38,MTCYBP20,RNU1-124P,SNORD65B,RNA5SP531,SIRLNT,CHRNA6,KAT6A,LINC02599,AP3M2,SPIDR
mahjani_21_ASD_discovery_cases-case248
Unknown
CEBPD,CHRNB3,BTF3P1,ANK1,FNTA,DKK4,GOLGA7,THAP1,SNTG1,TCIM,ZMAT4,POMK,RNF170,GINS4,HOOK3,SMIM19,PCMTD1,GPAT4,PSAT1P1,PXDNL,HGSNAT,IDO2,NKX6-3,IDO1,ADAM2,IKBKB,RPL10AP2,POTEA,MAPK6P4,CYCSP22,AFG3L2P1,ASNSP1,KRT18P37,RPL29P19,PPDPFL,MIR486-1,RPS29P2,LINC00293,IDI1P2,ATP6V1G1P2,MCM4,VN1R46P,RPL5P23,NDUFA5P12,ASNSP4,RFPL4AP7,TRIM60P15,BRIX1P1,MIR4469,MIR548AO,MTND1P7,SNX18P27,IGLV8OR8-1,PRKDC,PLAT,POLB,IKBKB-DT,MIR486-2,GPAT4-AS1,LINC02847,RN7SKP32,MTND6P20,LINC02866,RN7SKP294,SLC20A2,SNAI2,UBE2V2,VDAC3,SFRP1,RNU6-104P,RN7SL806P,RNU6-519P,RNU6-895P,RNU6-656P,RNU6-356P,RNU6-819P,RNU6-665P,HSPA8P13,CYP4F44P,RN7SL149P,RNU6-295P,MTND2P38,MTCYBP20,RNU1-124P,SNORD65B,RNA5SP531,SIRLNT,CHRNA6,KAT6A,LINC02599,AP3M2,SPIDR
mahjani_21_ASD_discovery_cases-case37
Unknown
CEBPD,CHRNB3,BTF3P1,ANK1,FNTA,DKK4,GOLGA7,THAP1,SNTG1,TCIM,ZMAT4,POMK,RNF170,GINS4,HOOK3,SMIM19,PCMTD1,GPAT4,PSAT1P1,PXDNL,HGSNAT,IDO2,NKX6-3,IDO1,ADAM2,IKBKB,RPL10AP2,POTEA,MAPK6P4,CYCSP22,AFG3L2P1,ASNSP1,KRT18P37,RPL29P19,PPDPFL,MIR486-1,RPS29P2,LINC00293,IDI1P2,ATP6V1G1P2,MCM4,VN1R46P,RPL5P23,NDUFA5P12,ASNSP4,RFPL4AP7,TRIM60P15,BRIX1P1,MIR4469,MIR548AO,MTND1P7,SNX18P27,IGLV8OR8-1,PRKDC,PLAT,POLB,IKBKB-DT,MIR486-2,GPAT4-AS1,LINC02847,RN7SKP32,MTND6P20,LINC02866,RN7SKP294,SLC20A2,SNAI2,UBE2V2,VDAC3,SFRP1,RNU6-104P,RN7SL806P,RNU6-519P,RNU6-895P,RNU6-656P,RNU6-356P,RNU6-819P,RNU6-665P,HSPA8P13,CYP4F44P,RN7SL149P,RNU6-295P,MTND2P38,MTCYBP20,RNU1-124P,SNORD65B,RNA5SP531,SIRLNT,CHRNA6,KAT6A,LINC02599,AP3M2,SPIDR
Controls
No Control Data Available
No Animal Model Data Available