A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma

Pediatr Blood Cancer. 2008 Mar;50(3):713-5. doi: 10.1002/pbc.21234.

Abstract

We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Base Sequence
  • Carboplatin / administration & dosage
  • Carboplatin / adverse effects
  • Child, Preschool
  • Codon, Nonsense*
  • Exons / genetics
  • Female
  • Genes, Neurofibromatosis 1*
  • Germ-Line Mutation
  • Heteroduplex Analysis
  • Humans
  • Infant
  • Molecular Sequence Data
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / drug therapy
  • Neoplasms, Multiple Primary / genetics*
  • Neurofibromatosis 1 / genetics*
  • Optic Nerve Glioma / diagnosis
  • Optic Nerve Glioma / drug therapy
  • Optic Nerve Glioma / genetics*
  • Point Mutation*
  • Siblings
  • Vincristine / administration & dosage

Substances

  • Codon, Nonsense
  • Vincristine
  • Carboplatin