A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.

ABSTRACT:

Purpose

Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea.

Design

Observational study.

Participants

A Chinese family diagnosed with autosomal dominant (AD) CCs with or without microphthalmia.

Methods

Because this was an observational study, it was not registered as a clinical trial. The proband and her 2 children were diagnosed with AD CCs and microcornea and were recruited for the study. Participants underwent complete ophthalmological examinations, and blood samples were used for genomic extraction.

Main outcom

SUBMITTER: Zhou Z 

PROVIDER: S-EPMC9560566 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature