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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

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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: 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: http://orca.cf.ac.uk/id/eprint/22932

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