The study aims to investigate the association between a novel variant in WFS1 and hereditary non-syndromic cataract.
Identified an indel variant in WFS1 within a Brazilian family
Evaluated the presence of cataracts among family members
Conducted genetic analysis to determine the variant's significance
The indel variant in WFS1 was associated with cataract formation
Findings suggest hereditary links to cataracts within the family
Further investigation is needed to clarify the variant's pathogenicity
Abstract
The indel variant in WFS1 was associated with a non-syndromic cataract in our Brazilian family. Further studies are necessary to elucidate the pathogenicity of this variant.