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.
Guernsey
Duane L
DL
Department of Pathology, Dalhousie University Halifax, Nova Scotia, Canada.
Jiang
Haiyan
H
Campagna
Dean R
DR
Evans
Susan C
SC
Ferguson
Meghan
M
Kellogg
Mark D
MD
Lachance
Mathieu
M
Matsuoka
Makoto
M
Nightingale
Mathew
M
Rideout
Andrea
A
Saint-Amant
Louis
L
Schmidt
Paul J
PJ
Orr
Andrew
A
Bottomley
Sylvia S
SS
Fleming
Mark D
MD
Ludman
Mark
M
Dyack
Sarah
S
Fernandez
Conrad V
CV
Samuels
Mark E
ME
D000756:Anemia, Sideroblastic / Q000235:genetics*; D000818:Animals; D002353:Carrier State; D005190:Family; D005399:Fishes / Q000235:genetics; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015003:Yeasts / Q000235:genetics
D033681:Mitochondrial Membrane Transport Proteins; C553226:Slc25a38 protein, human; D006418:Heme