__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
journal contribution
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 LehmannBACKGROUND: 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 GeneticsISSN
0022-2593Publisher
BMJ Publishing GroupExternal DOI
Issue
5Volume
55Page range
329-343Department 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
2018-03-28First Open Access (FOA) Date
2018-03-28First Compliant Deposit (FCD) Date
2018-03-28Usage metrics
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