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Genetic landscape of autism spectrum disorder in Vietnamese children

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...

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Autores principales: Tran, Kien Trung, Le, Vinh Sy, Bui, Hoa Thi Phuong, Do, Duong Huy, Ly, Ha Thi Thanh, Nguyen, Hieu Thi, Dao, Lan Thi Mai, Nguyen, Thanh Hong, Vu, Duc Minh, Ha, Lien Thi, Le, Huong Thi Thanh, Mukhopadhyay, Arijit, Nguyen, Liem Thanh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081304/
https://www.ncbi.nlm.nih.gov/pubmed/32193494
http://dx.doi.org/10.1038/s41598-020-61695-8
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author Tran, Kien Trung
Le, Vinh Sy
Bui, Hoa Thi Phuong
Do, Duong Huy
Ly, Ha Thi Thanh
Nguyen, Hieu Thi
Dao, Lan Thi Mai
Nguyen, Thanh Hong
Vu, Duc Minh
Ha, Lien Thi
Le, Huong Thi Thanh
Mukhopadhyay, Arijit
Nguyen, Liem Thanh
author_facet Tran, Kien Trung
Le, Vinh Sy
Bui, Hoa Thi Phuong
Do, Duong Huy
Ly, Ha Thi Thanh
Nguyen, Hieu Thi
Dao, Lan Thi Mai
Nguyen, Thanh Hong
Vu, Duc Minh
Ha, Lien Thi
Le, Huong Thi Thanh
Mukhopadhyay, Arijit
Nguyen, Liem Thanh
author_sort Tran, Kien Trung
collection PubMed
description 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.
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spelling pubmed-70813042020-03-23 Genetic landscape of autism spectrum disorder in Vietnamese children Tran, Kien Trung Le, Vinh Sy Bui, Hoa Thi Phuong Do, Duong Huy Ly, Ha Thi Thanh Nguyen, Hieu Thi Dao, Lan Thi Mai Nguyen, Thanh Hong Vu, Duc Minh Ha, Lien Thi Le, Huong Thi Thanh Mukhopadhyay, Arijit Nguyen, Liem Thanh Sci Rep Article 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. Nature Publishing Group UK 2020-03-19 /pmc/articles/PMC7081304/ /pubmed/32193494 http://dx.doi.org/10.1038/s41598-020-61695-8 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Tran, Kien Trung
Le, Vinh Sy
Bui, Hoa Thi Phuong
Do, Duong Huy
Ly, Ha Thi Thanh
Nguyen, Hieu Thi
Dao, Lan Thi Mai
Nguyen, Thanh Hong
Vu, Duc Minh
Ha, Lien Thi
Le, Huong Thi Thanh
Mukhopadhyay, Arijit
Nguyen, Liem Thanh
Genetic landscape of autism spectrum disorder in Vietnamese children
title Genetic landscape of autism spectrum disorder in Vietnamese children
title_full Genetic landscape of autism spectrum disorder in Vietnamese children
title_fullStr Genetic landscape of autism spectrum disorder in Vietnamese children
title_full_unstemmed Genetic landscape of autism spectrum disorder in Vietnamese children
title_short Genetic landscape of autism spectrum disorder in Vietnamese children
title_sort genetic landscape of autism spectrum disorder in vietnamese children
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081304/
https://www.ncbi.nlm.nih.gov/pubmed/32193494
http://dx.doi.org/10.1038/s41598-020-61695-8
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