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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2012

D'Hooghe Marc, Selleslag Dominik, Mortier Geert, Van Coster Rudy, Vermeersch Pieter, Billiet Johan, Bekri Soumeya

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22398176
DOI: 10.1016/j.ejpn.2012.02.003

Genes

ABCB7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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