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

Kebudi, Rejin, Tuncer, Samuray, Upadhyaya, Meena, Peksayar, Gonul, Spurlock, Gillian and Yazici, Hulya 2008. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatric Blood & Cancer 50 (3) , pp. 713-715. 10.1002/pbc.21234

Full text not available from this repository.

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) R Medicine > RE Ophthalmology
Uncontrolled Keywords:	gene mutation, neurofibromatosis type 1, optic glioma, siblings
Publisher:	Wiley-Blackwell
ISSN:	1545-5009
Last Modified:	04 Jun 2017 03:34
URI:	https://orca.cardiff.ac.uk/id/eprint/22932

Citation Data

Cited 7 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item