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, cilt.50, ss.713-715, 2008 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 50 Konu: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1002/pbc.21234
  • Sayfa Sayısı: ss.713-715


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.