A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1

Apply

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

neurofibromatosis type 1; NF1 gene; frame-shift mutation

Management of the open angle glaucoma in patients with central/hemicentral retinal vein occlusions

"AIM: To prospectively assess the cumulative prevalence and management of open angle glaucoma (OAG), including primary open angle glaucoma (POAG) with high and normal-pressure, as well as pseudoexfoliative glaucoma (PEXG...

Phacoemulsification with or without goniosynechialysis for angle-closure glaucoma: a global Meta-analysis based on randomized controlled trials

"AIM: To compare the benefits and potential harms of routine phacoemulsification (phaco) alone and combined surgery with goniosynechialysis (GSL) for angle-closure glaucoma (ACG) and coexisting lens opacity, as shown in...

EP ID EP479868
DOI 10.18240/ijo.2018.09.22
Views 60
Downloads 0