Nature Communications (Sep 2020)
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Sahar Elouej,
- Karim Harhouri,
- Morgane Le Mao,
- Genevieve Baujat,
- Sheela Nampoothiri,
- Hϋlya Kayserili,
- Nihal Al Menabawy,
- Laila Selim,
- Arianne Llamos Paneque,
- Christian Kubisch,
- Davor Lessel,
- Robert Rubinsztajn,
- Chayki Charar,
- Catherine Bartoli,
- Coraline Airault,
- Jean-François Deleuze,
- Agnes Rötig,
- Peter Bauer,
- Catarina Pereira,
- Abigail Loh,
- Nathalie Escande-Beillard,
- Antoine Muchir,
- Lisa Martino,
- Yosef Gruenbaum,
- Song-Hua Lee,
- Philippe Manivet,
- Guy Lenaers,
- Bruno Reversade,
- Nicolas Lévy,
- Annachiara De Sandre-Giovannoli
Affiliations
- Sahar Elouej
- Aix Marseille Univ, INSERM, MMG, U1251
- Karim Harhouri
- Aix Marseille Univ, INSERM, MMG, U1251
- Morgane Le Mao
- MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d’Angers, CHU d’Angers
- Genevieve Baujat
- Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital
- Sheela Nampoothiri
- Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin
- Hϋlya Kayserili
- Medical Genetics Department, Koç University, School of Medicine (KUSoM)
- Nihal Al Menabawy
- Neurology and Metabolic Division, Cairo University Children Hospital
- Laila Selim
- Neurology and Metabolic Division, Cairo University Children Hospital
- Arianne Llamos Paneque
- Medical Genetics Service Specialties Hospital FF AA No.1
- Christian Kubisch
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Davor Lessel
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Robert Rubinsztajn
- Pole of Anesthesiology and Reanimation, Necker Enfants Malades Hospital
- Chayki Charar
- Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem
- Catherine Bartoli
- Aix Marseille Univ, INSERM, MMG, U1251
- Coraline Airault
- Aix Marseille Univ, INSERM, MMG, U1251
- Jean-François Deleuze
- Centre National de Recherche en Génomique Humaine (CNRGH) and Centre d’Etude du Polymorphisme Humain (CEPH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset
- Agnes Rötig
- INSERM UMR1163, Institut Imagine
- Peter Bauer
- CENTOGENE AG
- Catarina Pereira
- CENTOGENE AG
- Abigail Loh
- Institute of Medical Biology, A*STAR
- Nathalie Escande-Beillard
- Medical Genetics Department, Koç University, School of Medicine (KUSoM)
- Antoine Muchir
- Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology
- Lisa Martino
- CeleScreen SAS
- Yosef Gruenbaum
- Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem
- Song-Hua Lee
- CeleScreen SAS
- Philippe Manivet
- CeleScreen SAS
- Guy Lenaers
- MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d’Angers, CHU d’Angers
- Bruno Reversade
- Medical Genetics Department, Koç University, School of Medicine (KUSoM)
- Nicolas Lévy
- Aix Marseille Univ, INSERM, MMG, U1251
- Annachiara De Sandre-Giovannoli
- Aix Marseille Univ, INSERM, MMG, U1251
- DOI
- https://doi.org/10.1038/s41467-020-18146-9
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 15
Abstract
Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes.
