Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

doi:doi:10.1007/s10038-004-0228-2

Journal of Human Genetics (2005) 50, 151–154; doi:10.1007/s10038-004-0228-2

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

Andrew J Ridley¹, James Colley², David Wynford-Thomas¹ and Christopher J Jones¹

¹Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
²Wales Gene Park, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK

Correspondence: Christopher J Jones, Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. Fax: +44-2920-744276. E-mail: Jonescj@cf.ac.uk

Received 11 November 2004; Accepted 19 December 2004; Published online 3 March 2005.

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Abstract

We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400). CS3BE displayed a novel missense mutation (A160V) and a previously described nonsense mutation (E13X). Although residing between the second and third WD-40 repeats characteristic of the CSA protein, A160 is completely conserved in all species that possess a CKN1 homologue. We also describe a mutation in a previously uncharacterised xeroderma pigmentosum group C subject (XP8CA) in the XPC gene (MIM 278720). XP8CA was homozygous for a 2 bp TG deletion in codon 547 resulting in premature termination at codon 572. Immunoblotting of XP8CA extracts confirmed the absence of full-length XPC protein that was present in unaffected cell lines.