9p22.1-p21.3CNV Type: Deletion
Largest CNV size: 4971900 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
4971900
1
0
1
mohamed_21_DD/ID_discovery_cases
Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
6
All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
Range, 5 mos.-9 yrs.
33.33% Male
2474814
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
5000649
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mohamed_21_DD/ID_discovery_cases
Egypt
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
NA
Affymetrix ChAS
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
marshall_08_ASD_discovery_cases-SK0015-003
NA
M
ASD
NA
NA
19712202
24684102
4971901
GRCh38
Deletion
Yes
mohamed_21_DD/ID_discovery_cases-case3
9 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: developmental delay, mild speech and language delay. Motor and musculoskeletal evaluation: global hypotonia, misaligned toes, clinodactyly, fusiform tapering fingers. Behavioral/psychiatric evaluation: negative for autistic behavior. Brain imaging: NA. Additonal medical history: inguinal hernia, umbilical hernia, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, slightly flat nasal bridge, slightly anteverted nares, long flat philtrum, low-set and posteriorly-rotated ears, short neck, widely spaced nipples, microcephaly. Growth parameters: weight mean, height -2 SD, head circumference -3.1 SD.
Intellectual disability
18894507
21369320
2474814
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0015-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
19684503
24685152
5000650
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
marshall_08_ASD_discovery_cases-SK0015-003
qPCR, qmPCR
Unknown
NA
NA
MIR4473,RNU4-26P,MIR4474,FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,IZUMO3,SLC24A2,MLLT3,MIR31HG,MTAP,LINC01239,ELAVL2,FOCAD,CDKN2B-AS1
mohamed_21_DD/ID_discovery_cases-case3
Unknown
PLIN2,DENND4C,HAUS6,FOCAD,KLHL9,ADAMTSL1,SAXO1,IFNA7,IFNA5,IFNWP4,IFNA4,IFNA10,IFNW1,IFNA13,IFNA14,IFNB1,IFNA6,IFNA17,IFNA21,IFNA16,IFNA20P,IFNA22P,ACER2,IFNWP18,MAP1LC3BP1,IFNWP5,HACD4,MIR491,IFNNP1,SCARNA8,IFNWP9,IFNWP15,MLLT3,NDUFA5P3,MIR4473,MIR4474,RPS6,FOCAD-AS1,C11orf98P1,RNU4-26P,RNU6-264P,SNORA30B,RRAGA,SLC24A2
yuen_17_ASD_discovery_cases-case1-0015-003
Agilent 1M
Unknown
Multiplex
Unknown
C11orf98P1,MIR4473,RNU4-26P,MIR4474,FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,IZUMO3,SLC24A2,MLLT3,MIR31HG,MTAP,LINC01239,ELAVL2,FOCAD,CDKN2B-AS1
Controls
No Control Data Available
No Animal Model Data Available