Genetic landscape of autism spectrum disorder in Vietnamese children

Tran, KT; Le, VS; Bui, HTP; Do, DH; Ly, HTT; Nguyen, HT; Dao, LTM; Nguyen, HT; Vu, DM; Ha, LT; Le, HTT; Mukhopadhyay, A; Nguyen, LT

Abstract

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children.

• Journal Article Type: Article
• Acceptance Date: Feb 18, 2020
• Online Publication Date: Mar 19, 2020
• Publication Date: Mar 19, 2020
• Deposit Date: Apr 3, 2020
• Publicly Available Date: Apr 3, 2020
• Journal: Scientific Reports
• Print ISSN: 2045-2322
• Publisher: Nature Publishing Group
• Volume: 10
• Issue: 1
• Pages: 5034
• DOI: https://doi.org/10.1038/s41598-020-61695-8
• Publisher URL: https://doi-org.salford.idm.oclc.org/10.1038/s41598-020-61695-8
• Related Public URLs: http://www.nature.com.salford.idm.oclc.org/srep/index.html
• Additional Information: Additional Information : ** From PubMed via Jisc Publications Router **Journal IDs: eissn 2045-2322 **Article IDs: pubmed: 32193494; pii: 10.1038/s41598-020-61695-8; pmc: PMC7081304 **History: accepted 18-02-2020; submitted 10-07-2019; Funders : Vinmec Health Care; Grant Number: ISC17.03