Abstract

Objective
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder characterized by a variety of endocrine and neurological manifestations, including extrapyramidal symptoms and intellectual disability.
Methods
This report presents the genetic characterization of five Iranian patients with WSS, including the first Iranian patient to undergo deep brain stimulation (DBS).
Results
We highlight five Iranian patients with mutations in the DCAF17 gene presenting with variable features of WSS, with symptom onset in early adolescence. Whole exome sequencing identified four homozygous variants (c.436delC, c.982-2A>G, c.580C>T, and c.838+1G>A) within the DCAF17 gene in the probands. Patients had variable responses to common therapies, and one patient achieved significant improvement following DBS.
Conclusion
We expand the clinical and genetic heterogeneity among Iranian patients and suggest the c.436delC variant as a founder mutation in the region. We highlight the importance of considering WSS in patients with both neurological and endocrine symptoms and suggest DBS as a potential treatment option.

• Keywords: Woodhouse-Sakati syndrome; DCAF17; Deep brain stimulation; Neuroendocrine disorder