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Hildick-Smith, G.J.* ; Cooney, J.D.* ; Garone, C.* ; Kremer, L.S. ; Haack, T.B. ; Thon, J.N.* ; Miyata, N.* ; Lieber, D.S.* ; Calvo, S.E.* ; Akman, H.O.* ; Yien, Y.Y.* ; Huston, N.C.* ; Branco, D.S.* ; Shah, D.I.* ; Freedman, M.L.* ; Koehler, C.M.* ; Italiano, J.E.* ; Merkenschlager, A.* ; Beblo, S.* ; Strom, T.M. ; Meitinger, T. ; Freisinger, P.* ; Donati, M.A.* ; Prokisch, H. ; Mootha, V.K.* ; DiMauro, S.* ; Paw, B.H.*

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Am. J. Hum. Genet. 93, 906-914 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Whole-genome ; Disorders ; Disease ; Protein ; Mutations ; Gene ; Identification ; Deficiency ; Consortium ; Mice
ISSN (print) / ISBN 0002-9297
e-ISSN 1537-6605
Journal American Journal of Human Genetics, The
Quellenangaben Volume: 93, Issue: 5, Pages: 906-914 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)