X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation

被引：33

作者：

D'Hooghe, Marc ^{[1
]}

Selleslag, Dominik ^{[2
]}

Mortier, Geert ^{[3
]}

Van Coster, Rudy ^{[4
]}

Vermeersch, Pieter ^{[5
]}

Billiet, Johan ^{[6
]}

Bekri, Soumeya ^{[7
]}

机构：

[1] Hosp Sint Jan, Dept Neurol & Child Neurol, B-8000 Brugge, Belgium

[2] Hosp Sint Jan, Dept Hematol, Brugge, Belgium

[3] Univ Antwerp Hosp, Ctr Med Genet, Antwerp, Belgium

[4] Univ Hosp, Dept Pediat, Div Pediat Neurol & Metab, Ghent, Belgium

[5] Katholieke Univ Leuven Hosp, Lab Med, Louvain, Belgium

[6] Hosp Sint Jan, Hematol Lab, B-8000 Brugge, Belgium

[7] Hop Charles Nicolle, Med Biochem Lab, CHU, Rouen, France

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2012年 / 16卷 / 06期

关键词：

Sideroblastic anemia; Ataxia; X-linked sideroblastic anemia and ataxia; ABCB7 gene mutation; Heme synthesis; Iron-sulfur cluster biogenesis; SULFUR CLUSTER BIOGENESIS; TRANSPORTER; FRATAXIN;

D O I：

10.1016/j.ejpn.2012.02.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：730 / 735

页数：6

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