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

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

Nguyen Thuy Duong  1 , Nguyen Phuong Anh  1 , Nguyen Duy Bac  2 , Le Bach Quang  2 , Noriko Miyake  3   4 , Nong Van Hai  1 , Naomichi Matsumoto  5
Affiliations

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

Nguyen Thuy Duong et al. Hum Genome Var. .

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Proband at the age of 16 and the pedigree analysis of the family in the study.
Sitting posture of II-2 from sidewise (A) and front (B). The family pedigree of the proband (C). Multiple sequence alignment at amino acid position p.K979 among different species (D). Sanger sequencing results of the proband, the proband’s healthy sister, and the proband’s healthy parents (E).
See this image and copyright information in PMC

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