A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome

KEY CLINICAL MESSAGE: Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which conve...

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Detalles Bibliográficos
Autores principales: Luo, Yu, Ling, Yan, Chen, Jiachao, Xu, Xi, Chen, Chen, Leng, Fei, Cheng, Jing, Chen, Min, Lu, Zhiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184625/
https://www.ncbi.nlm.nih.gov/pubmed/25356239
http://dx.doi.org/10.1002/ccr3.47
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author Luo, Yu
Ling, Yan
Chen, Jiachao
Xu, Xi
Chen, Chen
Leng, Fei
Cheng, Jing
Chen, Min
Lu, Zhiqiang
author_facet Luo, Yu
Ling, Yan
Chen, Jiachao
Xu, Xi
Chen, Chen
Leng, Fei
Cheng, Jing
Chen, Min
Lu, Zhiqiang
author_sort Luo, Yu
collection PubMed
description KEY CLINICAL MESSAGE: Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.
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spelling pubmed-41846252014-10-29 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome Luo, Yu Ling, Yan Chen, Jiachao Xu, Xi Chen, Chen Leng, Fei Cheng, Jing Chen, Min Lu, Zhiqiang Clin Case Rep Case Reports KEY CLINICAL MESSAGE: Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon. Blackwell Publishing Ltd 2014-04 2014-02-07 /pmc/articles/PMC4184625/ /pubmed/25356239 http://dx.doi.org/10.1002/ccr3.47 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Luo, Yu
Ling, Yan
Chen, Jiachao
Xu, Xi
Chen, Chen
Leng, Fei
Cheng, Jing
Chen, Min
Lu, Zhiqiang
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title_full A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title_fullStr A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title_full_unstemmed A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title_short A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
title_sort new mutation in the csb gene in a chinese patient with mild cockayne syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184625/
https://www.ncbi.nlm.nih.gov/pubmed/25356239
http://dx.doi.org/10.1002/ccr3.47
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