Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.

ABSTRACT:

Background

To identify the underlying genetic defects in autosomal dominant (ADCC) and autosomal recessive (ARCC) congenital cataract families from North India.

Methods

Detailed family histories were collected, pedigrees drawn followed by slit-lamp examination and lens photography. Mutation screening was performed using Sanger sequencing in the known candidate genes for crystallins, connexins, and membrane proteins. The pathogenicity of identified variants was assessed bioinformatically.

Results

In two ADCC families (CC-281 and CC-3015) with posterior lenticonus cataract, a novel change c.263C > T (p.P88L) in GJA3 in CC-281 family and a previously reported substitution c.388C > T (p.R130C) in LIM2 in CC-3015 family was observed. In an ARCC family (CC-3005) having cent

SUBMITTER: Goyal S 

PROVIDER: S-EPMC10765620 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature