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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
DOI: https://doi.org/10.14802/jmd.16003
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  • 6 Citations
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

Citations to this article as recorded by  
  • Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and litera
    Rehab Ali, Nader Al‐Dewik, Shayma Mohammed, Mahmud Elfituri, Sahar Agouba, Sara Musa, Laila Mahmoud, Mariam Almulla, Karen El‐Akouri, Howaida Mohd, Reem Bux, Hajer Almulla, Amna Othman, Fatma Al‐Mesaifri, Noora Shahbeck, Mariam Al‐Muriekhi, Amal Khalifa,
    American Journal of Medical Genetics Part A.2022; 188(1): 116.     CrossRef
  • Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
    Mohammed A Aljaffer, Ahmad H Almadani, Mohammad AlMutlaq, Abdulaziz Alhammad , Ahmed S Alyahya
    Cureus.2022;[Epub]     CrossRef
  • Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
    Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Houdi Zhou
    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
    A.H. Abusrair, S. Bohlega, A. Al-Semari, F.S. Al-Ajlan, K. Al-Ahmadi, B. Mohamed, A. AlDakheel
    American Journal of Neuroradiology.2018; 39(12): 2256.     CrossRef

JMD : Journal of Movement Disorders