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

Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003. Epub 2012 Mar 6.

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.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Anemia, Sideroblastic / genetics*
  • Ataxia / genetics*
  • Blood Cell Count
  • Blood Chemical Analysis
  • Child, Preschool
  • Cytogenetic Analysis
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Hemoglobins / chemistry
  • Hemoglobins / genetics
  • Humans
  • Male
  • Mothers
  • Mutation / genetics*
  • Mutation / physiology*
  • Mutation, Missense / genetics
  • Mutation, Missense / physiology
  • Pedigree
  • Skin / pathology

Substances

  • ABCB7 protein, human
  • ATP-Binding Cassette Transporters
  • Hemoglobins

Supplementary concepts

  • X-linked sideroblastic anemia