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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Schmitz-Abe K., Ciesielski S.J., Schmidt P.J., Campagna D.R., Rahimov F., Schilke B.A., Cuijpers M., Rieneck K., Lausen B., Linenberger M.L., Sendamarai A.K., Guo C., Hofmann I., Newburger P.E., Matthews D., Shimamura A., Snijders P.J., Towne M.C., Niemeyer C.M., Watson H.G., Dziegiel M.H., Heeney M.M., May A., Bottomley S.S., Swinkels D.W., Markianos K., Craig E.A., Fleming M.D.

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.

Blood 126:2734-2738(2015) [PubMed] [Europe PMC]

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