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Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency

Journal article
Authors Kalliopi Sofou
Carola Oldfors Hedberg
Gittan Kollberg
Christer Thomsen
Åsa Wiksell
Anders Oldfors
Mar Tulinius
Published in Mitochondrion
Volume 47
Pages 76-81
ISSN 1567-7249
Publication year 2019
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Clinical Sciences, Department of Pediatrics
Institute of Clinical Sciences, Department of Radiology
Pages 76-81
Language en
Keywords Complex I deficiency, Mitochondrial disease, SFXN4, Prenatal, Intrauterine growth retardation, manifestations, mutation, anemia, Cell Biology, Genetics & Heredity
Subject categories Medical Genetics


Prenatal onset of mitochondrial disease has been described in two cases with recessive mutations in the sideroflexin 4 gene (SFXN4). We present a third case with complex I deficiency associated with novel mutations in SFXN4. Our patient presented with intrauterine growth retardation, neonatal lactic acidosis, and developed macrocytic anemia and optic nerve hypoplasia. Muscle mitochondrial investigations revealed ultrastructural abnormalities, severe deficiency of complex I enzyme activity, and loss of subunit proteins. Whole-exome sequencing revealed bi-allelic SFXN4 mutations: a 1-base deletion, c.969delG, leading to frameshift and a premature stop codon, p.(G1n323Hisfs*20), and a stop-loss mutation in the C-terminal region, c.1012 T > C; p. (*388Glnext2), resulting in elongation of the protein by two amino acids. Expression analysis of mRNA from muscle showed loss of SFXN4 transcripts.

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