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Article

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Mitochondrion - 1 May 2026

Courtois Sarah, Angelini Chloé, Preud'homme Juliette, Le Quang Mégane, Dumon Elodie, Dulucq Stéphanie, Aladjidi Nathalie, Kannengiesser Caroline, Barat Pascal, Naudion Sophie, Espil Caroline, Martin-Negrier Marie-Laure, Trimouille Aurélien

Abstract excerpt

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,...

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Identifiers

PMID: 41713566
DOI: 10.1016/j.mito.2026.102136

Genes

SFXN4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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