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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts--bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.

Pubmed ID: 19412178

Authors

  • Guernsey DL
  • Jiang H
  • Campagna DR
  • Evans SC
  • Ferguson M
  • Kellogg MD
  • Lachance M
  • Matsuoka M
  • Nightingale M
  • Rideout A
  • Saint-Amant L
  • Schmidt PJ
  • Orr A
  • Bottomley SS
  • Fleming MD
  • Ludman M
  • Dyack S
  • Fernandez CV
  • Samuels ME

Journal

Nature genetics

Publication Data

June 27, 2009

Associated Grants

  • Agency: NIDDK NIH HHS, Id: K01 DK074410
  • Agency: NIDDK NIH HHS, Id: R01 DK080011
  • Agency: NIDDK NIH HHS, Id: R01 DK087992

Mesh Terms

  • Anemia, Sideroblastic
  • Animals
  • Carrier State
  • Family
  • Fishes
  • Heme
  • Humans
  • Mitochondrial Membrane Transport Proteins
  • Mutation
  • Phenotype
  • Yeasts