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

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the DDB1- and CUL4-associated factor 17 (DCAF17) gene. The c.321+1G>A splice-site mutation is an extremely rare variant with limited reports in the literature. Identification of such ultra-rare variants contributes to strengthening genotype-phenotype correlations. We describe a 33-year-old Kashmiri woman with classical features of WSS, including hypergonadotropic hypogonadism, diffuse alopecia, diabetes mellitus, characteristic facies, and intellectual disability. Whole-exome sequencing revealed a homozygous DCAF17 c.321+1G>A variant. This case represents a rare occurrence of this mutation and provides additional evidence supporting its pathogenic role in WSS.