8q11.21CNV Type: Duplication
Largest CNV size: 171142 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
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
267810
1
0
1
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
6929
2
0
2
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
52958
0
1
1
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
96000
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
171141
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
400000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
49605
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
171142
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
58119
0
1
1
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
51257
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2417
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
187982
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
58119
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
192578
2
1
3
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
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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-case182
3.33 yrs.
F
Developmental delay and epilepsy
Global developmental delay (poor neck control, can not sit, walk, speech delay), cerebral palsy, epilepsy with onset at 5 months with a history of frequent infantile spasms, flexor spasm, sleeping problem, eating problem (only eats liquid food), restlessness, non-stop crying, drooling. Her elder brother, who was deceased at the age of 8 months after suffering from pneumonia, also had delayed development (his neck was also weak). Anemic during pregnancy. Facial appearance abnormal. Growth parameters: height N/A, weight 12 kg, head circumference 46 cm. Family history: no data on familial consanguinity.
47705100
47972909
267810
GRCh38
Deletion
No
alayadhi_16_ASD_discovery_cases-caseAUT4-1
N/A
M
Autism
CARS score of 36.5; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 123.
50118661
50125589
6929
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT4-3
N/A
M
Autism
CARS score of 33.5; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 154.
50118661
50125589
6929
GRCh38
Deletion
Yes
brand_15_ASD_discovery_cases-case2
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 8 in this case. Duplication was previously observed by aCGH (chr8:50010896-50037784; hg19).
49086921
49139879
52959
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300151
N/A
M
Developmental delay and epilepsy/seizures
Global developmental delay, seizures, generalized hypotonia, strabismus
47929891
48026284
96394
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1142_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47556273
47727414
171142
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530942
M
Autism and developmental delay
Autism (HP:0000717), global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
47710501
48110500
400000
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case124504
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis ADHD; sibling diagnosis unaffected.
48106230
48155834
49605
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1142_4
NA
F
Autism
Verbal, seizures, gastrointestinal problems
Normal IQ
47556273
47727414
171142
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case65963
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
48328566
48386684
58119
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
48060820
48112077
51258
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
49098337
49125225
26889
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_15_ASD_discovery_controls-control12206.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49072830
49075247
2418
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-12206.s1
NA
M
Control
NA
NA
49021314
49209295
187982
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
49021417
49213995
192579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12343.s1
8
F
Control (matched sibling)
NA
NA
49092601
49125225
32625
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12931.s1
13.6
F
Control (matched sibling)
NA
NA
47234486
47359321
124836
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-case182
Unknown
CEBPD,MCM4,PRKDC,SPIDR
alayadhi_16_ASD_discovery_cases-caseAUT4-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
SNTG1
alayadhi_16_ASD_discovery_cases-caseAUT4-3
qPCR
De novo (CNV not observed in either parent)
Multiplex
SNTG1
brand_15_ASD_discovery_cases-case2
Maternal
Simplex
Unknown
digregorio_17_DD/ID_discovery_cases-DECIPHER_300151
Maternal
RNU6-519P,UBE2V2,PRKDC,MCM4
engchuan_15_ASD_discovery_cases-case1142_4
De novo
RNU6-665P,SPIDR
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530942
Unknown
CEBPD,MCM4,PRKDC,UBE2V2,RNU6-519P,SPIDR
mosca_16_DCD_discovery_cases-case124504
Unknown
Multi-generational
Unknown
pinto_10_ASD_discovery_cases-case1142_4
Affy5.0-Denovo
De novo
NA
NA
RNU6-665P,SPIDR
prasad_12_ASD_discovery_cases-case65963
Unknown
Unknown
Unknown
KIAA0146
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Segregated
UBE2V2
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control12206.s1
Illumina 1MDuo
Paternal
PPDPFL
levy_11_ASD_discovery_controls-12206.s1
Paternal
Simplex
NA
PPDPFL
sanders_11_ASD_discovery_controls-12206.s1
Paternal
Simplex (quad)
NA
PPDPFL
sanders_11_ASD_discovery_controls-12343.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12931.s1
Unknown
Simplex (quad)
NA
SPIDR
No Animal Model Data Available