Identification of rare paired box 3 variant in strabismus by whole exome sequencing
Journal Title: International Journal of Ophthalmology - Year 2017, Vol 10, Issue 8
Abstract
"AIM: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus. METHODS: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing. RESULTS: Whole exome sequencing and filtering identified a nonsynonymous mutation c.434G-T transition in paired box 3 (PAX3) in the two affected individuals, which were predicted to be deleterious by more than 4 bioinformatics programs. This altered amino acid residue was located in the conserved PAX domain of PAX3. This gene encodes a member of the PAX family of transcription factors, which play critical roles during fetal development. Mutations in PAX3 were associated with Waardenburg syndrome with strabismus. CONCLUSION: Our results report that the c.434G-T mutation (p.R145L) in PAX3 may contribute to strabismus, expanding our understanding of the causally relevant genes for this disorder."
Authors and Affiliations
Shu-Fang Chen
Keywords
Related Articles
- EP ID EP595402
- DOI 10.18240/ijo.2017.08.06
- Views 48
- Downloads 0
Development of a new choroidal metastasis in resistance to crizotinib therapy in anaplastic lymphoma kinase-rearranged non-small cell lung cancer
Opinion
The association of lumican polymorphisms and high myopia in a Southern Chinese population
"AIM: To investigate the correlation between lumican (LUM) gene and high myopia in a Southern Chinese population. METHODS: The study comprised of 95 high myopia patients with a spherical equivalent ≤−6.5 diopters (D). Th...
Dependence of dynamic contour and Goldmann applanation tonometries on peripheral corneal thickness
"AIM: To determine the effects of peripheral corneal thickness (PCT) on dynamic contour tonometry(DCT) and Goldmann applanation tonometry (GAT). METHODS: A cross-sectional study. We created a software which calculates th...
Effect of phacoemulsification on intraocular pressure in patients with primary open angle glaucoma and pseudoexfoliation glaucoma
"AIM: To compare the effect of phacoemulsification on intraocular pressure (IOP) in patients with primary open angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXG). METHODS: A retrospective comparative case series...
Clinical outcomes of patterned laser trabeculoplasty as adjuvant therapy in open angle glaucoma and ocular hypertension
"AIM: To assess the efficacy and safety of patterned laser trabeculoplasty (PLT) as an adjunctive treatment in open angle glaucoma (OAG) or ocular hypertension (OHT) patients who were under antiglaucoma medical treatment...