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

Ridley, Andrew J., Colley, James, Wynford-Thomas, David and Jones, Christopher J. 2005. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. Journal of Human Genetics 50 (3) , pp. 151-154. 10.1007/s10038-004-0228-2

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Hyperphotosensitivity, Skin neoplasia, Progeria, Nucleotide excision repair, Xeroderma pigmentosum, Cockayne syndrome
Publisher:	Nature Publishing Group
ISSN:	1434-5161
Last Modified:	12 Jun 2019 02:16
URI:	https://orca.cardiff.ac.uk/id/eprint/60799

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