Title
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
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
London ,
Subject
Human medicine
Source (journal)
European journal of paediatric neurology. - London
Volume/pages
16(2012) :6 , p. 730-735
ISSN
1090-3798
ISI
000310862800024
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
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.
E-info
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