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Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation

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 i...

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Autores principales: Hdiji, Olfa, Turki, Emna, Bouzidi, Nouha, Bouchhima, Imen, Damak, Mariem, Bohlega, Saeed, Mhiri, Chokri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorders Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886203/
https://www.ncbi.nlm.nih.gov/pubmed/27240811
http://dx.doi.org/10.14802/jmd.16003
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author Hdiji, Olfa
Turki, Emna
Bouzidi, Nouha
Bouchhima, Imen
Damak, Mariem
Bohlega, Saeed
Mhiri, Chokri
author_facet Hdiji, Olfa
Turki, Emna
Bouzidi, Nouha
Bouchhima, Imen
Damak, Mariem
Bohlega, Saeed
Mhiri, Chokri
author_sort Hdiji, Olfa
collection PubMed
description 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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spelling pubmed-48862032016-06-08 Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation Hdiji, Olfa Turki, Emna Bouzidi, Nouha Bouchhima, Imen Damak, Mariem Bohlega, Saeed Mhiri, Chokri J Mov Disord Case Report 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. The Korean Movement Disorders Society 2016-05 2016-05-25 /pmc/articles/PMC4886203/ /pubmed/27240811 http://dx.doi.org/10.14802/jmd.16003 Text en Copyright © 2016 The Korean Movement Disorder Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hdiji, Olfa
Turki, Emna
Bouzidi, Nouha
Bouchhima, Imen
Damak, Mariem
Bohlega, Saeed
Mhiri, Chokri
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title_full Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title_fullStr Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title_full_unstemmed Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title_short Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
title_sort woodhouse-sakati syndrome: report of the first tunisian family with the c2orf37 gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886203/
https://www.ncbi.nlm.nih.gov/pubmed/27240811
http://dx.doi.org/10.14802/jmd.16003
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