Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.

ABSTRACT:

Background

Congenital cataract is a common cause of blindness in childhood. About half of the cases have a genetic etiology, and more than 100 genes have been associated with congenital cataracts. This study reports the clinical and genetic findings of a two-generation Chinese family affected by congenital cataract.

Methods

Ophthalmologic examinations were performed for clinical evaluation of the cataract patients. Whole exome sequencing (WES) and Sanger sequencing were used to identify potentially relevant mutations. The online programsProtein Variation Effect Analyzer (PROVEAN) and Sorting Intolerant from Tolerant (SIFT) were employed to predict the impact of variation on protein function.

Results

Both the proband and her mother were blind because of bilateral nucle

SUBMITTER: Sheng D 

PROVIDER: S-EPMC9957680 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature