Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

J Appl Genet. 2008;49(3):297-300. doi: 10.1007/BF03195626.

Abstract

Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Loss of Heterozygosity*
  • Male
  • Middle Aged
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / epidemiology
  • Neurofibromatosis 2 / genetics*
  • Poland / epidemiology
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational