Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

ABSTRACT:

Purpose

This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities.

Methods

Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the patients. Next-generation sequencing of known ocular genes was applied to the proband of each family and two simplex cases to find pathogenic variances. PCR and Sanger sequencing were conducted for validation and segregation tests.

Results

All 13 patients had congenital cataracts, and other ocular abnormalities were found in some cases. Microcornea was found in 12 sub

SUBMITTER: Sun Z 

PROVIDER: S-EPMC5757854 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature