Article
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Nature communications - 11 Sept 2020
Elouej Sahar, Harhouri Karim, Le Mao Morgane, Baujat Genevieve, Nampoothiri Sheela, Kayserili Hϋlya, Menabawy Nihal Al, Selim Laila, Paneque Arianne Llamos, Kubisch Christian, Lessel Davor, Rubinsztajn Robert, Charar Chayki, Bartoli Catherine, Airault Coraline, Deleuze Jean-François, Rötig Agnes, Bauer Peter, Pereira Catarina, Loh Abigail, Escande-Beillard Nathalie, Muchir Antoine, Martino Lisa, Gruenbaum Yosef, Lee Song-Hua, Manivet Philippe, Lenaers Guy, Reversade Bruno, Lévy Nicolas, De Sandre-Giovannoli Annachiara
Abstract excerpt
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption,...
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