Clinical and Molecular Findings for Two Siblings with a Novel DCAF17 Variant

A case report documents two siblings with Woodhouse–Sakati syndrome, an ultra-rare multisystem disorder. Molecular analysis identified a novel homozygous frameshift variant in exon 13 of DCAF17 (NM_025000.4: c.1382_1383del; p.Thr461Ilefs*3). The report was authored by figshare admin karger and last updated in June 2026.

Use Cases

• Review phenotypic heterogeneity in Woodhouse–Sakati syndrome based on the described endocrine dysfunction, ectodermal abnormalities, and neurological involvement.
• Analyze genotype-phenotype correlations for DCAF17 based on the novel frameshift variant and clinical findings.
• Study iron accumulation in the globus pallidus as a neurological marker based on the brain MRI findings.
• Investigate additional clinical findings like erythrocyturia and hemoglobinuria based on the observations reported.

Strengths

• The report includes detailed molecular analysis with a specific pathogenic variant classification according to ACMG/AMP criteria.
• It provides a comparative clinical presentation for two siblings, highlighting intra-familial phenotypic heterogeneity.
• The data is openly licensed under CC-BY-4.0.

Limitations

• The dataset is a single case report with a tiny scope of 410.2 KB, limiting statistical analysis.
• Row count and column-level documentation are unknown, which may limit suitability assessment.
• The relationship between reported erythrocyturia and hemoglobinuria and Woodhouse–Sakati syndrome remains uncertain.

Provenance

Source

figshare

Collection Method

Clinical case study and molecular analysis.

Freshness

Last updated 2026-06-02 05:55:10; freshness should be verified.