Woodhouse-Sakati syndrome (WSS) [OMIM#241080] is a rare disorder characterized by hypogonadism, alopecia, cognitive impairment, diabetes mellitus and progressive extrapyramidal defects. Additional findings may include sensorineural deafness, decreased signal intensity in the basal ganglia, T-wave abnormalities and depressed insulin-like growth factor 1 (IGF-1) levels.
Mutations in the DCAF17 gene [OMIM#612515] are associated with Woodhouse-Sakati syndrome. DCAF17 (also known as C2orf37) encodes a nucleolar protein, and the nucleoli of affected patients have enhanced sensitivity to transcriptional blockade. To date, nonsense, splice site and frameshift mutations have been described in the DCAF17 gene.