X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation
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DOI：
10.1016/j.ejpn.2012.02.003
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发表时间：
2012-11-01
影响因子：
3.1
通讯作者：
Bekri, Soumeya
中科院分区：
文献类型：
--
作者：
D'Hooghe, Marc;Selleslag, Dominik;Bekri, Soumeya
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.
