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, sa.3, ss.713-715, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1002/pbc.21234
  • Dergi Adı: PEDIATRIC BLOOD & CANCER
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.713-715
  • Anahtar Kelimeler: gene mutation, neurofibromatosis type 1, Optic glioma, siblings, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, TWINS
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.