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Case Report
- 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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- 11 Web of Science
- 8 Crossref
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Abstract
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.
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Citations
Citations to this article as recorded by
- Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai
Orphanet Journal of Rare Diseases.2023;[Epub] CrossRef - The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
Hanadi Bakhsh, Norah Alqntash, Ebtesam Almajed
Life.2023; 13(10): 2022. CrossRef - Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
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
- Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
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