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Emna Turki 1 Article
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
Olfa Hdiji, Emna Turki, Nouha Bouzidi, Imen Bouchhima, Mariem Damak, Saeed Bohlega, Chokri Mhiri
J Mov Disord. 2016;9(2):120-123.   Published online May 25, 2016
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AbstractAbstract PDF
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.


Citations to this article as recorded by  
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    Frontiers in Genetics.2021;[Epub]     CrossRef
  • Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF 17 gene
    K. Shah, A. Jan, F. Ahmad, S. Basit, K. Ramzan, W. Ahmad
    Clinical and Experimental Dermatology.2020; 45(2): 159.     CrossRef
  • A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
    Erdal Kurnaz, Ayberk Türkyılmaz, Oğuzhan Yaralı, Berrin Demir, Atilla Çayır
    Journal of Pediatric Endocrinology and Metabolism.2019; 32(11): 1287.     CrossRef
  • Brain MR Imaging Findings in Woodhouse-Sakati Syndrome
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