Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review

The study expanded the understanding of Woodhouse-Sakati syndrome (WSS) by examining 58 patients from Qatar, all carrying the founder pathogenic variant c.436delC in the DCAF17 gene. It highlighted the clinical heterogeneity of WSS, with symptoms such as hypogonadism, diabetes mellitus, alopecia, intellectual disability, and deafness. Alopecia was present in all cases, and 46% had diabetes mellitus. The research emphasized the high prevalence of WSS in Qatar due to a founder effect and provided a comprehensive comparison with international cases, underscoring the variability in clinical presentations even among individuals with the same genetic variant. The study contributed to a better understanding of the syndrome's clinical features and genetic basis, aiding in improved diagnosis and management.