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

被引：10

作者：

Hdiji, Olfa ^{[1
]}

Turki, Emna ^{[1
]}

Bouzidi, Nouha ^{[1
]}

Bouchhima, Imen ^{[1
]}

Damak, Mariem ^{[1
]}

Bohlega, Saeed ^{[2
]}

Mhiri, Chokri ^{[1
]}

机构：

[1] Habib Bourguiba Hosp, Dept Neurol, Sfax 3029, Tunisia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Neurol, Riyadh, Saudi Arabia

来源：

JOURNAL OF MOVEMENT DISORDERS | 2016年 / 9卷 / 02期

关键词：

Woodhouse-Sakati syndrome; Dystonia; Mental retardation; Diabetes mellitus; Hypogonadism;

D O I：

10.14802/jmd.16003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：120 / 123

页数：4