Hereditary cataract associated with a novel variant in WFS1.

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

The proband presented with bilateral lamellar cataracts, while his sister had cerulean cataracts. A heterozygous variant, c.988_993del (p.Phe330_Phe331del), in the WFS1 gene was identified. This variant is absent at ClinVar and gnomAD databases and has not been previously reported.

CONCLUSION

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.