title: X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
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.
authors.affiliation: Department of Neurology and Child Neurology, Hospital Sint-Jan, Ruddershove 10, 8000 Bruges, Belgium. marc.dhooghe@azsintjan.be
authors.forename: Marc
authors.initials: M
authors.lastname: D'Hooghe
authors.forename: Dominik
authors.initials: D
authors.lastname: Selleslag
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Pieter
authors.initials: P
authors.lastname: Vermeersch
authors.forename: Johan
authors.initials: J
authors.lastname: Billiet
authors.forename: Soumeya
authors.initials: S
authors.lastname: Bekri
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D001772:Blood Cell Count; D001774:Blood Chemical Analysis; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006454:Hemoglobins / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008297:Male; D009035:Mothers; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D010375:Pedigree; D012867:Skin / Q000473:pathology
chemical_list: C113037:ABCB7 protein, human; D018528:ATP-Binding Cassette Transporters; D006454:Hemoglobins