Yu Luo and Yan Ling are co-first authors.
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
Version of Record online: 7 FEB 2014
© 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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.
Clinical Case Reports
Volume 2, Issue 2, pages 33–36, April 2014
How to Cite
Clinical Case Reports 2014; 2(2): 33–36
- Issue online: 9 APR 2014
- Version of Record online: 7 FEB 2014
- Manuscript Accepted: 27 NOV 2013
- Manuscript Revised: 28 OCT 2013
- Manuscript Received: 19 AUG 2013
- Cockayne syndrome;
- CSB gene;
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.