Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.

ABSTRACT:

Aims

The study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families.

Methods

A detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were performed. Mutation screening was carried out in the genes for crystallins and connexins by PCR and Sanger sequencing. Ethnically matched controls were tested for the identified variants. Different bioinformatics tools were used to assess the pathogenicity of the observed variants.

Results

In an ADCC family with total cataract, a novel change (c.166A > G) (p.Thr56Ala) in GJA8 was identified. In another ADCC family with nuclear cataract, c.134G > C (p.Trp45Ser) in GJA3 has been detected. These variants co-segregat

SUBMITTER: Vanita V 

PROVIDER: S-EPMC9755747 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature