Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome

Nguyen Thuy Duong; Nguyen Phuong Anh; Nguyen Duy Bac; Le Bach Quang; Noriko Miyake; Nong Van Hai; Naomichi Matsumoto

doi:10.1038/s41439-022-00200-1

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome

Hum Genome Var. 2022 Jun 6;9(1):21. doi: 10.1038/s41439-022-00200-1.

Authors

Nguyen Thuy Duong¹, Nguyen Phuong Anh¹, Nguyen Duy Bac², Le Bach Quang², Noriko Miyake^{3

4}, Nong Van Hai¹, Naomichi Matsumoto⁵

Affiliations

¹ Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
² Vietnam Military Medical University, Hanoi, Vietnam.
³ Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁴ National Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
⁵ Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

Abstract

We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense variant in the ERCC6 gene, NM_000124.4: c.[2839C>T;2936A>G], p.[R947*;K979R]. This case emphasizes the importance of WES in investigating the etiology of a disease when patients do not present the complete clinical phenotypes of Cockayne syndrome.

Abstract

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