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


Kebudi R. , Tuncer S., Upadhyaya M., Peksayar G., Spurlock G., Yazici H.

PEDIATRIC BLOOD & CANCER, vol.50, no.3, pp.713-715, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 3
  • Publication Date: 2008
  • Doi Number: 10.1002/pbc.21234
  • Title of Journal : PEDIATRIC BLOOD & CANCER
  • Page Numbers: pp.713-715
  • Keywords: gene mutation, neurofibromatosis type 1, Optic glioma, siblings, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, TWINS

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.