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| Status |
Public on May 25, 2018 |
| Title |
Affymetrix CytoScan HD for autism spectrum disorder in children |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
Genome variation profiling by SNP array
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| Summary |
Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNV). The aim of the study was to identify new candidate genes for ASD in the studied cohort of ASD-diagnosed patients. We used chromosomal microarray analysis (CMA) - a Cytoscan HD (Affymetrix, Santa Clara, CA, USA) to detect CNV in 87 ASD patients and their relatives and evaluated their clinical significance. Pathogenic and likely pathogenic mutations were identified by CMA in 8 and 9 ASD patients, respectively. CMA revealed 89 rare CNV: 8 pathogenic, 12 designated VOUS - likely pathogenic, 12 VOUS - uncertain, and 57 VOUS - likely benign or benign. CNV (pathogenic/VOUS-likely pathogenic/VOUS - uncertain) overlapping the same gene in more than one patient were observed in DOCK8 gene and PARK2 gene. This work presents new evidence about the possible roles of PARK2 and DOCK8 in the etiology of ASD, and suggests CTNNA2 as a candidate gene for ASD risk.
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| Overall design |
Affymetrix CytoScan HD arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples.
Copy number analysis of Affymetrix CytoScan HD arrays was performed for 87 ASD patients and their relatives.
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| Contributor(s) |
Srovnal J, Capkova P |
| Citation(s) |
30647996 |
| Submission date |
May 24, 2018 |
| Last update date |
Feb 15, 2019 |
| Contact name |
Josef Srovnal |
| E-mail(s) |
josef.srovnal@upol.cz
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| Organization name |
Palacky University
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| Department |
IMTM
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| Street address |
Hnevotinska 5
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| City |
Olomouc |
| ZIP/Postal code |
77900 |
| Country |
Czech Republic |
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| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
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| Samples (87)
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| Relations |
| BioProject |
PRJNA472953 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE114870_RAW.tar |
10.3 Gb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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