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KMID : 1197720160090020120
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대한파킨슨병 및 이상운동질환 학회지
2016 Volume.9 No. 2 p.120 ~ p.123
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Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
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Hdiji Olfa
Turki Emna
Bouzidi Nouha
Bouchhima Imen
Damak Mariem
Bohlega Saeed
Mhiri Chokri
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Abstract
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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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KEYWORD
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Woodhouse-Sakati syndrome, Dystonia, Mental retardation, Diabetes mellitus, Hypogonadism
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