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

IF 2.5 4区医学 Q2 CLINICAL NEUROLOGY

Journal of Movement Disorders Pub Date : 2025-04-16 DOI:10.14802/jmd.25043

Sepehr Khosravi, Toktam Moosavian, Shadab Salehpour, Seyed Amir Hassan Habibi, Afagh Alavi, Mohammad Rohani

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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.

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伊朗患者Woodhouse-Sakati综合征的临床和遗传特征：一个病例系列。

目的：Woodhouse-Sakati综合征（WSS）是一种罕见的常染色体隐性神经内分泌疾病，以多种内分泌和神经系统受累为特征，包括锥体外系症状和智力残疾。方法：本文报道了5例伊朗WSS患者的遗传特征，并报道了第一例接受深部脑刺激（DBS）治疗的伊朗患者。结果：我们重点报道了5例DCAF17基因突变的伊朗患者，这些患者表现出WSS的不同特征，症状出现在青春期早期。全外显子组测序在先显子DCAF17基因中发现了4个纯合变异（c.436delC、c.982-2A>G、c.580C>T和c.838+1G>A）。患者对常见治疗有不同的反应，其中一名患者在DBS后取得了显着改善。结论：我们扩大了伊朗患者的临床和遗传异质性，并表明c.436delC变异是该地区的一个始创突变。我们强调在有神经和内分泌症状的患者中考虑WSS的重要性，并建议DBS作为一种潜在的治疗选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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