Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract.

ABSTRACT: Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole blood was obtained from four consanguineous families with CC. Genomic DNA was extracted from the blood, and the combination of targeted and Sanger sequencing was used to identify the causative gene. The mutations detected were analyzed in silico for structural and protein-protein interactions to predict their impact on protein activities. The sequencing found a known FYCO1 mutation (c.2206C>T; p.Gln736Term) in autosomal recessive mode in families with CC. Co-segregation analysis showed affected individuals as hom

SUBMITTER: Ullah MI 

PROVIDER: S-EPMC10456301 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature