Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability

Although it has been a half-century since dioxin-contaminated herbicides were used to defoliate the landscape during the Vietnam War, dioxin contamination "hotspots" still remain in Vietnam. Environmental and health impacts of these hotspots need to be evaluated. Intellectual disability (I...

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Bibliographic Details
Published in:International journal of environmental research and public health 2018-11, Vol.15 (12), p.2629
Main Authors: Nguyen, Dang Ton, Nguyen, Hai Ha, Nguyen, Thuy Duong, Nguyen, Thi Thanh Hoa, Nakano, Kaoru, Maejima, Kazuhiro, Sasaki-Oku, Aya, Nguyen, Van Ba, Nguyen, Duy Bac, Le, Bach Quang, Wong, Jing Hao, Tsunoda, Tatsuhiko, Nakagawa, Hidewaki, Fujimoto, Akihiro, Nong, Van Hai
Format: Article
Language:English
Subjects:
Animal cognition
Bioinformatics
Contamination
Dioxins
Ets-2 protein
Genes
Genetic diversity
Genomes
Herbicides
Heterozygosity
Intellectual disabilities
Laboratory animals
Missense mutation
Mutation
Whole genome sequencing
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Summary:Although it has been a half-century since dioxin-contaminated herbicides were used to defoliate the landscape during the Vietnam War, dioxin contamination "hotspots" still remain in Vietnam. Environmental and health impacts of these hotspots need to be evaluated. Intellectual disability (ID) is one of the diseases found in the children of people exposed to the herbicides. This study aims to identify genetic alterations of a patient whose family lived in a dioxin hotspot. The patient's father had a highly elevated dioxin concentration. He was affected with undiagnosed moderate ID. To analyze de novo mutations and genetic variations, and to identify causal gene(s) for ID, we performed whole genome sequencing (WGS) of the proband and his parents. Two de novo missense mutations were detected, each one in and genes, respectively. Compound heterozygosity was identified in and genes. Existing knowledge on the genes and bioinformatics analyses suggest that , , and might be promising candidates for ID causative genes.
ISSN:1660-4601
1661-7827
1660-4601
DOI:10.3390/ijerph15122629