A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

J Hum Genet. 2000;45(2):84-5. doi: 10.1007/s100380050016.

Abstract

We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arginine / genetics*
  • Base Sequence
  • Cafe-au-Lait Spots / genetics
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Female
  • Humans
  • Korea
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*

Substances

  • Codon, Nonsense
  • Neurofibromin 1
  • Proteins
  • Arginine