Cockayne syndrome type A: novel mutations in eight typical patients

J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25.

Abstract

Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B. CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcription-coupled repair system of the actively transcribed DNA. Mutation analysis of the CKN1 gene in eight typical CS-A Brazilian patients from six families showed a gene alteration in all of them. We found a total of five novel mutations that were absent from healthy control subjects. Six affected subjects were simple homozygotes and two affected siblings were each compound heterozygotes. While the findings extend the range of mutations in CS-A, there is no obvious genotype-phenotype correlation across the mutational spectrum.

MeSH terms

  • Brazil
  • Child
  • Child, Preschool
  • Cockayne Syndrome / genetics*
  • DNA Mutational Analysis
  • DNA Repair Enzymes / genetics
  • Female
  • Genome, Human / genetics
  • Humans
  • Male
  • Mutation / genetics*
  • Transcription Factors / genetics

Substances

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