A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1
Journal Title: International Journal of Ophthalmology - Year 2018, Vol 11, Issue 9
Abstract
We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, sequenced, compared with a reference database. One novel NF1 frame-shift mutation c.703_704delTA, which resulted in a premature stop signal at codon 720 and the synthesis of truncated, was revealed. This mutation segregated with the NF1 members is likely responsible for the pathogenesis of NF1 in the family.
Authors and Affiliations
Zhu-Ping Xu
Keywords
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- EP ID EP479868
- DOI 10.18240/ijo.2018.09.22
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