Human Genome Variation (Jun 2022)

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
https://doi.org/10.1038/s41439-022-00200-1
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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.