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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Autores principales: Duong, Nguyen Thuy, Anh, Nguyen Phuong, Bac, Nguyen Duy, Quang, Le Bach, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170721/
https://www.ncbi.nlm.nih.gov/pubmed/35668072
http://dx.doi.org/10.1038/s41439-022-00200-1
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author Duong, Nguyen Thuy
Anh, Nguyen Phuong
Bac, Nguyen Duy
Quang, Le Bach
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
author_facet Duong, Nguyen Thuy
Anh, Nguyen Phuong
Bac, Nguyen Duy
Quang, Le Bach
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
author_sort Duong, Nguyen Thuy
collection PubMed
description 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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spelling pubmed-91707212022-06-08 Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome Duong, Nguyen Thuy Anh, Nguyen Phuong Bac, Nguyen Duy Quang, Le Bach Miyake, Noriko Van Hai, Nong Matsumoto, Naomichi Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-06-06 /pmc/articles/PMC9170721/ /pubmed/35668072 http://dx.doi.org/10.1038/s41439-022-00200-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Duong, Nguyen Thuy
Anh, Nguyen Phuong
Bac, Nguyen Duy
Quang, Le Bach
Miyake, Noriko
Van Hai, Nong
Matsumoto, Naomichi
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title_full Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title_fullStr Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title_full_unstemmed Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title_short Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
title_sort whole-exome sequencing revealed a novel ercc6 variant in a vietnamese patient with cockayne syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170721/
https://www.ncbi.nlm.nih.gov/pubmed/35668072
http://dx.doi.org/10.1038/s41439-022-00200-1
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