Missense mutation in a patient with X-linked dyskeratosis congenita

Haematologica. 2003 Apr;88(4):ECR11.

Abstract

We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine. This is the third description of a mutation in codon 350 (exon 11), changing a very well conserved amino acid in the pseudouridine synthase (PUA) domain of dyskerin.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Cycle Proteins / genetics
  • DNA Mutational Analysis
  • Dyskeratosis Congenita / genetics*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Mutation, Missense*
  • Nuclear Proteins / genetics

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins