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__smbhome.uscs.susx.ac.uk_pma24_Desktop_CS paper J Med Genet rev2 accepted pdf.pdf (931.24 kB)

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

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posted on 2023-06-09, 12:40 authored by Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Orbinger, Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan LehmannAlan Lehmann
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.

History

Publication status

  • Published

File Version

  • Accepted version

Journal

Journal of Medical Genetics

ISSN

0022-2593

Publisher

BMJ Publishing Group

Issue

5

Volume

55

Page range

329-343

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Research groups affiliated with

  • Genome Damage and Stability Centre Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2018-03-28

First Open Access (FOA) Date

2018-03-28

First Compliant Deposit (FCD) Date

2018-03-28

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