8p23.2-p23.1CNV Type: Deletion-Duplication
Largest CNV size: 149000 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
840713
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
43845
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
173496
0
2
2
glancy_09_ASD_discovery_cases
ASD proband is the first-born child of unrelated parents (mother with history of epilepsy & learning problems, father with history of psychiatric problems).
1
ASD. Diagnosis of autism based on satisfying ICD-10 criteria.
4.5 yrs.
Male
6780000
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
2047014
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
761459
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
179945
1
0
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
6811962
2
0
2
ozgen_09_ASD_replication_cases
Cohort of 54 families with at least one autistic patient
54
ASD
149000
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
10094
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
272288
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
135505
0
1
1
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
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
235460
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
235461
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
83918
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
glancy_09_ASD_discovery_cases
Argentinian
FISH, microsatellite, MLPA
aCGH (Agilent 44K)
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
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
ozgen_09_ASD_replication_cases
Solid phase hybridization
HumanHap300
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case45
1.83 yrs.
M
ASD and developmental delay
Autism, speech delay, restlessness. Growth parameters: height 0.84 m, weight 12 kg, head circumference 51 cm. Family history: born to non-consanguineous parents.
5610831
6451543
840713
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4527_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6354060
6397905
43846
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12861.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
6272164
6445660
173497
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13802.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
6272164
6445660
173497
GRCh38
Duplication
Yes
glancy_09_ASD_discovery_cases-proband
4.5 yrs.
M
Autism
Diagnosis of autism based on ICD-10 criteria. Developmental milestones: severely delayed speech (around five single words in both English and Spanish at 3.5 yrs., receptive language skills at a higher level); mild motor delay (independent walking at 1.5 yrs.). Behavioral characteristics: tended to play alone in nursery, no repetitive play, hand flapping when excited, upset by change in routine, poor eye-to-eye contact, no spontaneous affection. Seizures: none. Dysmorphic features: none. Gastrointestinal characteristics: complaints of poor feeding & diarrhea. Respiratory characteristics: required anitubercular treatment after developing hilar shadowing & lower lobe collapse with positive Mantoux test. Growth parameters: height, 50th %ile; weight, 50th %ile; head circumference, >50th %ile. Family history: mother diagnosed with epilepsy and learning problems; during pregnancy, mother discontinued usage of anticonvulsants & was treated for tuberculosis; father diagnosed with psychiatric problems, had previous history of substance abuse; younger brother with mild expressive language delay, no autistic features, non-dysmorphic, normal growth parameters.
3539893
10323426
6780000
Unknown
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4975829
7022841
2047013
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3333
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6086276
6847734
761459
GRCh38
Deletion
Yes
li_18_ASD_discovery_cases-case4701
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
6204420
6384365
179946
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_30-FAS
4.3 yrs.
F
NDD
Prenatal history: Oligo-/Polyhydramnios or Renal issues. Neonatal history: Poor suck, Irritable, Prematurity. Neurologic profile: Difficulty walking/Wobbly, clumsy gait, Tremors. Brain imaging abnormality: Unspecified brain imaging abnormality. Sleep problems: Unspecified sleep problems. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Inguinal hernia.
3000929
9812890
6811962
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_4-CSMD1-5'
13.5 yrs
M
ASD and epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Autism. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait, Microcephaly. Seizures: Febrile. Gastrointestinal abnormalities: Constipation, GERD. Genitourinary abnormalities: Cryptorchidism. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media.
3487506
6346874
2859369
GRCh38
Deletion
No
ozgen_09_ASD_replication_cases-patient2
NA
M
ASD
No motor delays, speech delay, problems with concentration, hyperactive behavior, and oppositional behavioral problems
NA
6272894
6421990
149097
GRCh38
Duplication
No
ozgen_09_ASD_replication_cases-patient3
NA
F
ASD
Problems in concentrating, hyperactivity and learning problems, Normal motor development
Total IQ 98
6272894
6421990
149097
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
6354060
6364154
10095
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case213050
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, language disorder, Klinefelter Syndrome no additional phenotypes reported one extra X chromosome to a standard human male karyotype, for a total of 47
6265537
6446380
180844
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD168-8961233
N/A
M
OCD
Primary diagnosis: OCD. Additional phenotype(s): Tics/Tourette's
6157894
6430182
272289
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036016137_
N/A
N/A
Control
No previous psychiatric history
6273748
6409253
135506
GRCh38
Duplication
No
kushima_18_ASD/SCZ_discovery_controls-controlCON1709
22 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
6229107
6464566
235460
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1709
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
6229106
6464566
235461
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11156.s1
10.3
M
Control (matched sibling)
NA
NA
6351904
6374488
22585
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
6298137
6382055
83919
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case45
Unknown
MCPH1,MCPH1-DT,RN7SKP159
engchuan_15_ASD_discovery_cases-case4527_1
Unknown
girirajan_13a_ASD_discovery_cases-12861.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MCPH1
girirajan_13a_ASD_discovery_cases-13802.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MCPH1
glancy_09_ASD_discovery_cases-proband
aCGH (Agilent 44K)
Maternal
Simplex (for ASD)
Unknown
41 genes (MCPH1)
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,AGPAT5,GS1-24F4.2,DEFA1,MCPH1,ANGPT2,MCPH1-AS1,XKR5,CSMD1
kushima_22_SCZ_discovery_cases-caseSCZ3333
qRT-PCR
Unknown
ANGPT2,AGPAT5,MCPH1,XKR5,MCPH1-DT,MCPH1-AS1,MIR4659B,MIR4659A,MIR8055
li_18_ASD_discovery_cases-case4701
Unknown
Simplex
Unknown
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_30-FAS
Unknown
ANGPT2,DEFA3,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,PPP1R3B,CSMD1,ERI1,DEFB104A,CLDN23,PRAG1,DEFT1P,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,FAM90A20P,MIR597,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MCPH1-AS1,MIR4659B,MIR4660,MIR4659A,RNA5SP251,RNU7-55P,PRR23D3P,MIR8055,FAM85B,RN7SL178P,ALG1L13P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RNU6-1151P,SNRPCP17,TNKS,MFHAS1,SPAG11B
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_4-CSMD1-5'
Unknown
CSMD1,PAICSP4,RPL23AP54,RNA5SP251,RN7SL318P,RN7SKP159
ozgen_09_ASD_replication_cases-patient2
Maternal
Multiplex (sibling of patient 4)
NA
MCPH1
ozgen_09_ASD_replication_cases-patient3
Maternal
Multiplex (sibling of patient 3)
NA
MCPH1
sanders_11_ASD_discovery_cases-11156.p1
Paternal
Simplex (quad-proband matched)
Not segregated
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case213050
RT-qPCR or WGS
Unknown
MCPH1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD168-8961233
RT-qPCR or WGS
Maternal
MCPH1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016137_
Unknown
MCPH1
kushima_18_ASD/SCZ_discovery_controls-controlCON1709
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MCPH1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1709
qRT-PCR
Unknown
MCPH1,MCPH1-DT
sanders_11_ASD_discovery_controls-11156.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available