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

Dang Ton Nguyen, Hai Ha Nguyen, Thuy Duong Nguyen, Thi Thanh Hoa Nguyen, Kaoru Nakano, Kazuhiro Maejima, Aya Sasaki-Oku, Nguyen Van Ba, Duy Bac Nguyen, Bach Quang Le, Jing Hao Wong, Tatsuhiko Tsunoda, Hidewaki Nakagawa, Akihiro Fujimoto and Nong Van Hai
Additional contact information
Dang Ton Nguyen: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam
Hai Ha Nguyen: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam
Thuy Duong Nguyen: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam
Thi Thanh Hoa Nguyen: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam
Kaoru Nakano: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Kazuhiro Maejima: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Aya Sasaki-Oku: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Nguyen Van Ba: Vietnam Military Medical University, Ha Dong, Hanoi 100000, Vietnam
Duy Bac Nguyen: Vietnam Military Medical University, Ha Dong, Hanoi 100000, Vietnam
Bach Quang Le: Vietnam Military Medical University, Ha Dong, Hanoi 100000, Vietnam
Jing Hao Wong: Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan
Tatsuhiko Tsunoda: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Hidewaki Nakagawa: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Akihiro Fujimoto: RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan
Nong Van Hai: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam

IJERPH, 2018, vol. 15, issue 12, 1-11

Abstract: 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.

Keywords: dioxin; intellectual disability; ETS2; CENPF; ZNF480 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2018
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