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

被引：2

作者：

Duong, Nguyen Thuy ^{[1
]}

Anh, Nguyen Phuong ^{[1
]}

Bac, Nguyen Duy ^{[2
]}

Quang, Le Bach ^{[2
]}

Miyake, Noriko ^{[3
,4
]}

Van Hai, Nong ^{[1
]}

Matsumoto, Naomichi ^{[3
]}

机构：

[1] Vietnam Acad Sci & Technol, Inst Genome Res, Hanoi, Vietnam

[2] Vietnam Mil Med Univ, Hanoi, Vietnam

[3] Yokohama City Univ, Grad Sch Med, Yokohama, Kanagawa, Japan

[4] Natl Ctr Global Hlth & Med, Natl Res Inst, Tokyo, Japan

来源：

HUMAN GENOME VARIATION | 2022年 / 9卷 / 01期

关键词：

GROUP-B GENE; CSB PROTEIN; ATPASE DOMAIN; REPAIR; MUTATIONS;

D O I：

10.1038/s41439-022-00200-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：3

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