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

J Hum Genet. 2005;50(3):151-154. doi: 10.1007/s10038-004-0228-2. Epub 2005 Mar 3.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Cockayne Syndrome / genetics*
  • DNA Primers
  • DNA Repair Enzymes
  • DNA-Binding Proteins / genetics*
  • Humans
  • Immunoblotting
  • Mutation / genetics*
  • Proteins / genetics*
  • Sequence Analysis, DNA
  • Transcription Factors
  • Xeroderma Pigmentosum / genetics*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • ERCC8 protein, human
  • Proteins
  • Transcription Factors
  • XPC protein, human
  • DNA Repair Enzymes