Hereditary cataract associated with a <i>novel</i> variant in <i>WFS1</i>

BACKGROUND: This study describes clinical and genetic findings of a Brazilian four-generation family with hereditary cataracts. MATERIALS AND METHODS: In a large family comprising 31 members, 14 individuals were identified as being affected with hereditary cataracts. Next-generation sequence was undertaken in one affected individual, and subsequent segregation analysis was conducted on his affected sister. RESULTS: gene was identified. This variant is absent at ClinVar and gnomAD databases and has not been previously reported. CONCLUSION: was associated with a non-syndromic cataract in our Brazilian family. Further studies are necessary to elucidate the pathogenicity of this variant.