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
Descripción
Sumario: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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