Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series.

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 patien

SUBMITTER: Khosravi S 

PROVIDER: S-EPMC12301929 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature