Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide

This document reports the second known case worldwide of Woodhouse-Sakati syndrome (WSS) caused by the rare DCAF17 c.321+1G>A mutation. The subject is a 33-year-old Kashmiri woman exhibiting classical WSS symptoms, including hypergonadotropic hypogonadism, diffuse alopecia, diabetes mellitus, characteristic facies, and intellectual disability. Whole-exome sequencing confirmed the presence of the homozygous DCAF17 c.321+1G>A variant. This case strengthens the genotype-phenotype correlation and supports the pathogenic role of this ultra-rare mutation in WSS.