Hereditary Cataract Study in a Brazilian Family with a Novel WFS1 Variant

A Brazilian four-generation family with 14 of 31 members affected by hereditary cataracts provides clinical and genetic data. The study identifies a novel heterozygous indel variant (c.988_993del) in the WFS1 gene, absent from major public databases. Bernardo Przysiezny published this research on figshare in April 2026 under a CC-BY-4.0 license.

Use Cases

• Validate the association of a novel WFS1 variant with cataract based on the described clinical findings.
• Compare clinical phenotypes (lamellar vs. cerulean cataracts) within a single family based on the description.
• Assess the novelty of a genetic variant by checking its absence from ClinVar and gnomAD as reported.
• Study hereditary disease patterns in a multi-generation Brazilian family based on the described pedigree.

Strengths

• Focuses on a novel genetic variant not previously reported in public databases.
• Includes clinical data from a four-generation family with 14 affected individuals.
• Published under a permissive CC-BY-4.0 license.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect geographic bias inherent to a single Brazilian family study.

Provenance

Source

figshare

Collection Method

Clinical and genetic analysis of a family, including next-generation sequencing and segregation analysis.

Time Range

null

Freshness

Last updated 2026-04-16 06:02:52; freshness should be verified.

Geography

Brazil