Format

Send to

Choose Destination
Pediatr Blood Cancer. 2008 Mar;50(3):713-5.

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

Author information

1
Division of Pediatric Hematology-Oncology, Oncology Institute, Istanbul University, Turkey. rejinkebudi@hotmail.com

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.

PMID:
17514731
DOI:
10.1002/pbc.21234
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center