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Hereditary cataract associated with a novel variant in WFS1
Bernardo Przysiezny1, Thais de Melo Baccega1, Erásio de Grácia Neto1
1Department of Cataract Surgery, Instituto Suel Abujamra, São Paulo, Brazil.
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.
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