8p23.1-p21.2CNV Type: Duplication
Largest CNV size: 14100000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
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
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
14190937
0
6
6
ozgen_09_ASD_discovery_cases
Female patient diagnosed with ASD
1
ASD
12
Female
14100000
0
1
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
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_6
0.9 yrs.
F
Epilepsy/seizures
Neonatal history: Feeding difficulty, Seizures. Neurologic profile: Hypotonia, Hypertonia. Seizures: Complex partial. EEG: Epileptiform changes. Sleep problems: Unspecified sleep problems. Gastrointestinal abnormalities: GERD, Feeding difficulty.
10842525
25033461
14190937
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_45
15.9 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Balance issues. Seizures: Absence. EEG: Slowing, Other abnormal activity. Sleep problems: Other sleep problems. Cardiac issues: ASD, Enlarged heart. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD, Intestinal malrotation. Musculoskeletal abnormalities: Scoliosis, Pes planus. Genitourinary abnormalities: Hydronephrosis. Skin abnormalities: Eczema. Dental abnormalities: Overbite, Early eruption.
12088345
26142484
14054140
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_46
6.64 yrs.
F
Epilepsy/seizures
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia. Seizures: Absence. Sleep problems: Night terrors. Cardiac issues: PFO. Gastrointestinal abnormalities: Constipation. Skin abnormalities: Rashes. Dental abnormalities: Crooked teeth.
12698494
25171162
12472669
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_47
6.33 yrs.
F
ASD and epilepsy/seizures
Prenatal history: Reduced fetal movement, Gestational DM. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Autism, Short attention span/ADD/ADHD/Hyperactivity, Encopresis. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Seizures: Absence, Tonic-clonic, Atonic. EEG: Other abnormal activity. Sleep problems: Sleep apnea. Gastrointestinal abnormalities: Constipation. Frequent infections: Otitis media. Denta abnormalitiesl: Widely-spaced teeth. Additional medical history: Conductive hearing loss (fluid), High pain tolerance.
12695327
24822418
12127092
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_48
0.9 yrs.
M
Epilepsy/seizures
Prenatal history: Intracranial cyst. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity, Hypoglycemia, Torticollis. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Cerebral/cerebellar atrophy. Seizures: Absence. EEG: Slowing. Cardiac issues: VSD, PDA. Gastrointestinal abnormalities: Anal stenosis. Dental abnormalities: Delayed eruption.
12725399
24757875
12032477
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_49
4.7 yrs.
M
Epilepsy/seizures
Neonatal history: Irritable, Respiratory distress. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia. Seizures: Absence, Febrile. EEG: Slowing. Sleep problems: Sleep difficulty. Gastrointestinal abnormalities: Constipation, GERD. Genitourinary abnormalities: Two urethral opening. Skin abnormalities: Dry skin. Dental abnormalities: Enamel hypoplasia.
12077513
23818432
11740920
GRCh38
Duplication
No
ozgen_09_ASD_discovery_cases-patient1
12
F
ASD
Dysmorphism, generalized hypotonia, overall cognitive and motor skills equivalent to a 2-3 year old
Equivalent to a 2-3 year old
12383584
26850400
14466817
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
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_6
Unknown
ASAH1,NATP,NAT1,BLK,ATP6V1B2,BMP1,POLR3D,NAT2,FDFT1,FGL1,EGR3,DMTN,CTSB,FGF20,ADAMDEC1,CNOT7,SLC25A37,ZDHHC2,INTS10,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,MTMR9,NUDT18,SH2D4A,FAM167A,REEP4,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,CHMP7,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,TDH,R3HCC1,GATA4,GFRA2,NEIL2,DEFB130A,DEFB109A,XKR6,MICU3,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,RPL19P13,OR7E161P,OR7E158P,FAM90A25P,USP17L7,MIR320A,OR6R2P,C8orf58,DEFB134,DEFB108D,DEFB135,MIR383,DEFB109D,DEFB108E,DEFB136,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,MIR598,ZNF705D,BTF3P3,SUB1P1,DEFB131C,FAM90A2P,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,DEFB130B,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,RPS3AP35,ALG1L12P,MIR3926-1,MIR548V,MIR3926-2,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,MIR6841,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1084P,RNU6-397P,ENPP7P12,RN7SL303P,RNA5SP253,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RN7SL293P,RNU1-148P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,DEFB131E,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_45
Unknown
ASAH1,NATP,NAT1,ATP6V1B2,BMP1,POLR3D,NAT2,FGL1,EGR3,DMTN,FGF20,ADAMDEC1,CNOT7,SLC25A37,ZDHHC2,INTS10,KCTD9,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,EBF2,SH2D4A,REEP4,DOCK5,CHMP7,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,CDCA2,R3HCC1,GNRH1,GFRA2,DEFB130A,DEFB109A,MICU3,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,FAM90A25P,USP17L7,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,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,RPS3AP35,ALG1L12P,MIR3926-1,MIR548V,MIR3926-2,RNA5SP258,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,MIR6841,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-397P,ENPP7P12,RN7SL303P,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU1-148P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_46
Unknown
ASAH1,NATP,NAT1,ATP6V1B2,BMP1,POLR3D,NAT2,FGL1,EGR3,DMTN,FGF20,ADAMDEC1,CNOT7,SLC25A37,ZDHHC2,INTS10,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,SH2D4A,REEP4,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,R3HCC1,GFRA2,MICU3,LINC02153,MRPL49P2,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,MIR3926-1,MIR548V,MIR3926-2,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,MIR6841,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU1-148P,MTND4LP26,RNU6-842P,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_47
Unknown
ASAH1,NATP,NAT1,ATP6V1B2,BMP1,POLR3D,NAT2,FGL1,EGR3,DMTN,FGF20,ADAMDEC1,CNOT7,SLC25A37,ZDHHC2,INTS10,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,SH2D4A,REEP4,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,R3HCC1,GFRA2,MICU3,LINC02153,MRPL49P2,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,MSR1,LOXL2,NKX3-1,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,MIR3926-1,MIR548V,MIR3926-2,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU1-148P,MTND4LP26,RNU6-842P,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_48
Unknown
ASAH1,NATP,NAT1,ATP6V1B2,BMP1,POLR3D,NAT2,FGL1,EGR3,DMTN,FGF20,ADAMDEC1,CNOT7,SLC25A37,ZDHHC2,INTS10,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,SH2D4A,REEP4,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,R3HCC1,GFRA2,MICU3,LINC02153,MRPL49P2,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,MSR1,LOXL2,NKX3-1,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,MIR3926-1,MIR548V,MIR3926-2,RNA5SP257,RNA5SP256,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNU1-148P,MTND4LP26,RNU6-842P,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,NPM2,LZTS1,ADAM28,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_49
Unknown
ASAH1,NATP,NAT1,ATP6V1B2,BMP1,POLR3D,NAT2,FGL1,EGR3,DMTN,FGF20,CNOT7,SLC25A37,ZDHHC2,INTS10,PIWIL2,CCAR2,TRMT9B,HR,MTUS1,BIN3,CSGALNACT1,PDLIM2,NUDT18,SH2D4A,REEP4,CHMP7,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,R3HCC1,GFRA2,DEFB130A,DEFB109A,MICU3,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,FAM90A25P,USP17L7,MIR320A,OR6R2P,C8orf58,DEFB108D,MIR383,DEFB109D,DEFB108E,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,ZNF705D,BTF3P3,FAM90A2P,LPL,MSR1,LOXL2,NKX3-1,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,RPS3AP35,ALG1L12P,MIR3926-1,MIR548V,MIR3926-2,RNA5SP257,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,LINC00681,PCM1,PDGFRL,PPP3CC,RNU7-153P,SLC18A1,SLC7A2,SFTPC,RNU6-397P,ENPP7P12,RN7SL303P,RNA5SP253,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,OR7E15P,TNFRSF10D,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,OR7E10P,NPM2,LZTS1,DLC1,XPO7,RHOBTB2,PSD3,SLC39A14
ozgen_09_ASD_discovery_cases-patient1
Unknown
NA
NA
DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,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,FAM66A,FAM86B2,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,ENPP7P6,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,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B
Controls
No Control Data Available
No Animal Model Data Available