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, Van Ba Nguyen, Duy Bac Nguyen, Bach Quang Le, Jing Hao Wong, Tatsuhiko Tsunoda (+3 others)
2018 International Journal of Environmental Research and Public 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
more » ... 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.
doi:10.3390/ijerph15122629 pmid:30477169 fatcat:ktiggrhbknaqpaiq4lptcdckdy