title: Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
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.
authors.affiliation: Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Ridley
authors.affiliation: Wales Gene Park, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
authors.forename: James
authors.initials: J
authors.lastname: Colley
authors.affiliation: Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
authors.forename: David
authors.initials: D
authors.lastname: Wynford-Thomas
authors.affiliation: Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. Jonescj@cf.ac.uk.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Jones
mesh_terms: D002460:Cell Line; D003057:Cockayne Syndrome / Q000235:genetics*; D017931:DNA Primers; D045643:DNA Repair Enzymes; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014157:Transcription Factors; D014983:Xeroderma Pigmentosum / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C095472:ERCC8 protein, human; D011506:Proteins; D014157:Transcription Factors; C086984:XPC protein, human; D045643:DNA Repair Enzymes
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