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Updated: May 6, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Descripción fenotípica y caracterización funcional de la enfermedad mitocondrial asociada con el gen SFXN4

Sarah Courtois¹, Chloé Angelini², Juliette Preud'homme³

¹INSERM U1211, Rare diseases: genetics and metabolism (MRGM), University of Bordeaux, France; CRMSB - UMR 5536 - CNRS, Centre de Résonance Magnétique des Systèmes Biologiques, University of Bordeaux, France.

|February 19, 2026

Abstract:

Sideroflexin 4 (SFXN4) is a transmembrane protein located in the inner membrane of the mitochondria. SFXN4 is also thought to be involved in the formation of iron-sulphur centres. Deleterious bi-allelic variants of the SFXN4 gene have been reported in only 3 patients, with a phenotype including intellectual disability and macrocytic anaemia. We describe here a patient carrying pathogenic variants of SFXN4, associated with a non-anaemic sideroblastic macrocytosis and a complex I deficiency.

Palabras clave:

Macrocitosis Enfermedad mitocondrial SFXN4

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