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Open AccessArticle

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

1
Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam
2
RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
3
Vietnam Military Medical University, Ha Dong, Hanoi 100000, Vietnam
4
Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan
5
Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113-8510, Japan
*
Authors to whom correspondence should be addressed.
Int. J. Environ. Res. Public Health 2018, 15(12), 2629; https://doi.org/10.3390/ijerph15122629
Received: 19 October 2018 / Revised: 19 November 2018 / Accepted: 23 November 2018 / Published: 23 November 2018
(This article belongs to the Section Environmental Health)
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 ETS2 and ZNF408 genes, respectively. Compound heterozygosity was identified in CENPF and TTN genes. Existing knowledge on the genes and bioinformatics analyses suggest that EST2, ZNF408, and CENPF might be promising candidates for ID causative genes. View Full-Text
Keywords: dioxin; intellectual disability; ETS2; CENPF; ZNF480 dioxin; intellectual disability; ETS2; CENPF; ZNF480
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MDPI and ACS Style

Nguyen, D.T.; Nguyen, H.H.; Nguyen, T.D.; Nguyen, T.T.H.; Nakano, K.; Maejima, K.; Sasaki-Oku, A.; Nguyen, V.B.; Nguyen, D.B.; Le, B.Q.; Wong, J.H.; Tsunoda, T.; Nakagawa, H.; Fujimoto, A.; Nong, V.H. Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability. Int. J. Environ. Res. Public Health 2018, 15, 2629. https://doi.org/10.3390/ijerph15122629

AMA Style

Nguyen DT, Nguyen HH, Nguyen TD, Nguyen TTH, Nakano K, Maejima K, Sasaki-Oku A, Nguyen VB, Nguyen DB, Le BQ, Wong JH, Tsunoda T, Nakagawa H, Fujimoto A, Nong VH. Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability. International Journal of Environmental Research and Public Health. 2018; 15(12):2629. https://doi.org/10.3390/ijerph15122629

Chicago/Turabian Style

Nguyen, Dang T.; Nguyen, Hai H.; Nguyen, Thuy D.; Nguyen, Thi T.H.; Nakano, Kaoru; Maejima, Kazuhiro; Sasaki-Oku, Aya; Nguyen, Van B.; Nguyen, Duy B.; Le, Bach Q.; Wong, Jing H.; Tsunoda, Tatsuhiko; Nakagawa, Hidewaki; Fujimoto, Akihiro; Nong, Van H. 2018. "Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability" Int. J. Environ. Res. Public Health 15, no. 12: 2629. https://doi.org/10.3390/ijerph15122629

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