KMDS
E-submission
Articles
- Page Path
- HOME > J Mov Disord > Accepted Articles > Article
- Brief communication Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series
-
Sepehr Khosravi1, Toktam Moosavian2, Shadab Salehpour3, Seyed Amir Hassan Habibi1, Afagh Alavi4, Mohammad Rohani1,5
-
DOI: https://doi.org/10.14802/jmd.25043 [Accepted]
Published online: April 16, 2025
- 264 Views
- 20 Download
- 0 Crossref
- 0 Scopus
1Department of Neurology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
2Pediatric Neurology Department, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3Department of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
5Skull Base Research Center, Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
2Pediatric Neurology Department, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3Department of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
5Skull Base Research Center, Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
-
Corresponding author:
Mohammad Rohani, Tel: +98 21 66 52 5331, Fax: +98 21 66 52 5331,
Email: rohani.m@iums.ac.ir
Received: 17 February 2025 • Revised: 22 March 2025 • Accepted: 15 April 2025
Abstract
Objective
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder characterized by a variety of endocrine and neurological involvement, including extrapyramidal symptoms and intellectual disability.
Methods
This report presents five Iranian patients with WSS with their genetic characterizations, also reporting the first Iranian patient to undergo Deep Brain Stimulation (DBS).
Result
We highlight five Iranian patients with mutations in 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.
Comments on this article
Cite
