Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

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Calmels, Nadege, Botta, Elena, Jia, Nan, Fawcett, Heather, Nardo, Tiziana, Nakazawa, Yuka, Lanzafame, Manuela, Moriwaki, Shinichi, Sugita, Katsuo, Kubota, Masaya, Orbinger, Cathy, Spitz, Marie-Aude, Stefanini, Miria, Laugel, Vincent, Orioli, Donata, Ogi, Tomoo and Lehmann, Alan Robert (2018) Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Journal of Medical Genetics, 55 (5). pp. 329-343. ISSN 0022-2593

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Abstract

BACKGROUND:

Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity and an abnormal cellular response to UV light due to mutations in either the ERCC8/CSA or ERCC6/CSB gene. Studies performed thus far have failed to delineate clear genotype-phenotype relationships. We have carried out a four-centre clinical, molecular and cellular analysis of 124 patients with CS.

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Research Centres and Groups: Genome Damage and Stability Centre
Related URLs:
Depositing User: Paula Amiet-West
Date Deposited: 28 Mar 2018 11:14
Last Modified: 04 Jul 2018 11:21
URI: http://srodev.sussex.ac.uk/id/eprint/74699

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