CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism

J Hum Genet. 2004;49(1):61-63. doi: 10.1007/s10038-003-0107-2. Epub 2003 Dec 6.

Abstract

We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cells, Cultured
  • Child
  • Cockayne Syndrome / genetics*
  • DNA Primers
  • DNA Repair Enzymes
  • Female
  • Gene Frequency
  • Humans
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Transcription Factors

Substances

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