A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma
PEDIATRIC BLOOD & CANCER, vol.50, no.3, pp.713-715, 2008 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 50 Issue: 3
- Publication Date: 2008
- Doi Number: 10.1002/pbc.21234
- Journal Name: PEDIATRIC BLOOD & CANCER
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.713-715
- Keywords: gene mutation, neurofibromatosis type 1, Optic glioma, siblings, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, TWINS
- Istanbul University Affiliated: Yes
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.