8p23.1-p21.1CNV Type: Duplication
Largest CNV size: 16706169 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
15616710
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
16706169
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
15350001
0
1
1
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
16462928
0
3
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case42A
2 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, hypotonia, corpus callosum agenesis, macrocephaly, prominent ears.
Developmental delay/intellectual disability
12077514
27694223
15616710
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002298
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12750796
29445409
16694614
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530525
F
Autism and seizures
Autism (HP:0000717), poor speech (HP:0002465), seizure (HP:0001250), abnormal facial shape (HP:0001999)
12485000
27835000
15350001
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_42
7.6 yrs.
M
ASD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Prematurity. Neurobehavioral profile: Autism. Brain imaging abnormality: Dandy-Walker malformation. Cardiac issues: BAV. Gastrointestinal abnormalities: Feeding difficulty. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
12546493
28551790
16005298
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_43
7.7 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Stiff infant. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Echolalia. Neurologic profile: Hypotonia, Coordination problems. Seizures: Absence, Febrile. Gastrointestinal abnormalities: Constipation.
12048697
28511624
16462928
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_44
5.5 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Respiratory distress. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Seizures: Febrile, Tonic-clonic, Atonic. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error, Cortical visual impairment. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Hypermobile joints. Genitourinary abnormalities: Prominent clitoris. Skin abnormalities: Cold hands and feet. Frequent infections: Upper respiratory infections. Dental abnormalities: Early eruption.
12728933
27721748
14992816
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
akkus_24_ASD/DD/ID_discovery_cases-case42A
De novo
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,POLR3D,NAT2,BMP1,ASAH1,CLU,BNIP3L,EPHX2,FGL1,DPYSL2,PTK2B,DMTN,EGR3,ADAMDEC1,FGF20,CNOT7,SLC25A37,SCARA3,ZDHHC2,KCTD9,PIWIL2,INTS10,MTUS1,HR,BIN3,CSGALNACT1,TRMT9B,CCAR2,PDLIM2,EBF2,NUDT18,FHIP2B,SH2D4A,STMN4,REEP4,DOCK5,FAM86B1,LONRF1,CHMP7,VPS37A,SGCZ,NKX2-6,PPM1AP1,C8orf48,CDCA2,LGI3,SDAD1P1,R3HCC1,PEBP4,GNRH1,GULOP,GFRA2,DEFB130A,DEFB109A,MICU3,LINC02153,PSME2P5,USP17L2,OR7E8P,MRPL49P2,TNFRSF10A-DT,FAM90A25P,ZNF705CP,USP17L7,OR6R2P,MIR320A,C8orf58,DEFB108D,MIR383,DEFB109D,DEFB108E,CCT3P1,RPL32P19,ADAM24P,SINHCAFP3,FAM86B2,ZNF705D,TMEM97P2,BTF3P3,FAM90A2P,NEFM,NKX3-1,LOXL2,NEFL,MSR1,LPL,EIF4EP5,FAM66D,FAM66A,RPL30P9,RPL35P6,RPS3AP35,DEFB131D,RPL23AP55,DNAJB6P2,RPS3AP34,MIR548H4,ALG1L12P,MIR3926-1,MIR3926-2,MIR548V,COX6B1P4,PIWIL2-DT,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP256,RNA5SP258,RNA5SP257,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,PPP2R2A,MIR6841,MIR6842,MTUS1-DT,MIR6876,MIR6843,RNU7-153P,STC1,SFTPC,SLC7A2,SLC18A1,ENPP7P12,RNU6-397P,RNU6-336P,RN7SL303P,RNA5SP253,RN7SL474P,ALG1L11P,RNU4-71P,RNU6-1086P,RNA5SP254,RNU6-842P,RNU1-148P,MTND4LP26,RNU6-892P,ENPP7P6,TNFRSF10A-AS1,TNFRSF10A,ADAM7,TNFRSF10D,TNFRSF10B,TNFRSF10C,OR7E15P,TUSC3,FGF17,ENTPD4-DT,HRURF,MTMR7,PHYHIP,SORBS3,DOK2,ENTPD4,NPM2,LZTS1,DLC1,OR7E10P,PNMA2,ADAM28,RHOBTB2,PSD3,XPO7,TRIM35,SLC39A14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002298
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530525
Unknown
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,POLR3D,NAT2,BMP1,ASAH1,CLU,BNIP3L,EPHX2,FGL1,DPYSL2,PTK2B,DMTN,EGR3,ADAMDEC1,FGF20,CNOT7,SLC25A37,SCARA3,ZDHHC2,KCTD9,PIWIL2,INTS10,CCDC25,MTUS1,PBK,HR,BIN3,CSGALNACT1,TRMT9B,CCAR2,PDLIM2,EBF2,NUDT18,FHIP2B,SH2D4A,STMN4,REEP4,DOCK5,LONRF1,CHMP7,VPS37A,SGCZ,NKX2-6,PPM1AP1,C8orf48,CDCA2,LGI3,SDAD1P1,R3HCC1,PEBP4,ESCO2,GNRH1,GULOP,GFRA2,MICU3,LINC02153,PSME2P5,OR7E8P,MRPL49P2,TNFRSF10A-DT,OR6R2P,MIR320A,C8orf58,MIR383,CCT3P1,RPL32P19,ADAM24P,SINHCAFP3,TMEM97P2,BTF3P3,NEFM,NKX3-1,LOXL2,NEFL,MSR1,LPL,EIF4EP5,RPL30P9,RPL35P6,RPS3AP35,RPL23AP55,DNAJB6P2,RPS3AP34,MIR548H4,MIR3622A,MIR3926-1,MIR3926-2,MIR548V,COX6B1P4,MIR3622B,PIWIL2-DT,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP256,RNA5SP258,RNA5SP257,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,PPP2R2A,MIR6841,MIR6842,MTUS1-DT,MIR6876,MIR6843,RNU7-153P,STC1,SFTPC,SLC7A2,SLC18A1,RNU6-397P,RNU6-336P,RN7SL303P,RN7SL474P,RNU4-71P,RNU6-1086P,RNU6-842P,RNU1-148P,MTND4LP26,RNU6-892P,RNU6-1276P,ENPP7P6,TNFRSF10A-AS1,TNFRSF10A,ADAM7,TNFRSF10D,TNFRSF10B,TNFRSF10C,OR7E15P,TUSC3,FGF17,ENTPD4-DT,HRURF,MTMR7,PHYHIP,SORBS3,DOK2,ENTPD4,NPM2,LZTS1,DLC1,OR7E10P,PNMA2,ADAM28,RHOBTB2,PSD3,XPO7,TRIM35,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_42
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,FGF20,ADAMDEC1,SCARA3,CNOT7,SLC25A37,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,CCAR2,TRMT9B,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,RPL5P22,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DNAJB6P2,RPS3AP35,MIR548H4,MIR3926-1,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,RNA5SP258,RNA5SP257,RNA5SP259,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PNOC,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-178P,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU6-1086P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_43
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,FGF20,ADAMDEC1,SCARA3,CNOT7,SLC25A37,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,CCAR2,TRMT9B,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,DEFB130A,DEFB109A,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,C8orf58,DEFB108D,MIR383,DEFB109D,DEFB108E,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,ZNF705D,BTF3P3,FAM90A2P,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,DEFB130B,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,RNA5SP258,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PNOC,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-178P,RNU6-397P,ENPP7P12,RN7SL303P,RNA5SP253,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU6-1086P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_44
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,FGF20,ADAMDEC1,SCARA3,CNOT7,SLC25A37,ZDHHC2,INTS10,KCTD9,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,CDCA2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,MICU3,PSME2P5,LINC02153,MRPL49P2,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3622B,MIR3622A,COX6B1P4,MIR548V,RNA5SP258,RNA5SP257,RNA5SP256,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU6-1086P,RNU1-148P,MTND4LP26,RNU6-842P,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14
Controls
No Control Data Available
No Animal Model Data Available