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

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 v...

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Bibliographic Details
Published in:Human genome variation Vol. 9; no. 1; p. 21
Main Authors: Duong, Nguyen Thuy, Anh, Nguyen Phuong, Bac, Nguyen Duy, Quang, Le Bach, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Format: Journal Article
Language:English
Published: London Nature Publishing Group UK 06-06-2022
Springer Nature B.V
Nature Publishing Group
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Summary: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.
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-022-00200-1