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Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-55648
Biblioteca responsável: WPRO
ABSTRACT
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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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fenótipo / Encéfalo / Humanos / Consanguinidade / Doenças Neurodegenerativas / Irmãos / Diabetes Mellitus / Diagnóstico / Distonia / Alopecia Aspecto clínico: Diagnóstico Idioma: Inglês Revista: Journal of Movement Disorders Ano de publicação: 2016 Tipo de documento: Artigo