Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.

ABSTRACT:

Purpose

To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family.

Methods

The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study. We performed whole exome sequencing to reveal pathogenic mutation. We used amplification refractory mutation system polymerase chain reaction and Sanger sequencing techniques to confirm segregation in patients and also to rule it out in the healthy participants.

Results

A known missense mutation, c.827C>T (S276F), in GJA8 was identified. This mutation was confirmed in all patients. Neither all healthy family members nor 100 healt

SUBMITTER: Asghari M 

PROVIDER: S-EPMC10481974 | biostudies-literature | 2023 Jan-Mar

REPOSITORIES: biostudies-literature