Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

ABSTRACT:

Background

Congenital cataract is causing one-third of blindness worldwide. Congenital cataract is heterogeneous in its inheritance patterns. The current study is aimed to explore the unknown genetic causes underlying congenital cataracts.

Methods

Blood samples from affected and normal individuals of n = 25 Pakistani families identified with congenital cataracts were collected. Genomic DNA was extracted and Sanger sequencing was performed to identify novel pathogenic variants in the FYCO1 (MIM#607182) gene. Later structural bioinformatics tools and molecular dynamics simulations were performed to analyze the impact of these variants on protein structure and function.

Results

Sanger sequencing resulted in the identification of a novel splice site mutation (NM_024513.3:

SUBMITTER: Saleem RS 

PROVIDER: S-EPMC9356559 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature