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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Authors
  • Elouej, Sahar1
  • Harhouri, Karim1
  • Le Mao, Morgane2
  • Baujat, Genevieve3
  • Nampoothiri, Sheela4
  • Kayserili, Hϋlya5
  • Menabawy, Nihal Al6
  • Selim, Laila6
  • Paneque, Arianne Llamos7
  • Kubisch, Christian8
  • Lessel, Davor8
  • Rubinsztajn, Robert9
  • Charar, Chayki10
  • Bartoli, Catherine1
  • Airault, Coraline1
  • Deleuze, Jean-François11
  • Rötig, Agnes12
  • Bauer, Peter13
  • Pereira, Catarina13
  • Loh, Abigail14
  • And 10 more
  • 1 Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France , Marseille (France)
  • 2 Université d’Angers, CHU d’Angers, Angers, France , Angers (France)
  • 3 INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France , Paris (France)
  • 4 Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin, Kerala, India , Kerala (India)
  • 5 Koç University, School of Medicine (KUSoM), Istanbul, Turkey , Istanbul (Turkey)
  • 6 Cairo University Children Hospital, Cairo, Egypt , Cairo (Egypt)
  • 7 Medical Genetics Service Specialties Hospital FF AA No.1, Quito, Ecuador , Quito (Ecuador)
  • 8 University Medical Center Hamburg-Eppendorf, Hamburg, Germany , Hamburg (Germany)
  • 9 Necker Enfants Malades Hospital, Paris, France , Paris (France)
  • 10 Hebrew University of Jerusalem, Jerusalem, Israel , Jerusalem (Israel)
  • 11 Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset, Paris, France , Paris (France)
  • 12 INSERM UMR1163, Institut Imagine, Paris, France , Paris (France)
  • 13 CENTOGENE AG, Rostock, Germany , Rostock (Germany)
  • 14 Institute of Medical Biology, A*STAR, Singapore, Singapore , Singapore (Singapore)
  • 15 Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology, Paris, France , Paris (France)
  • 16 CeleScreen SAS, Paris, France , Paris (France)
  • 17 Hôpital Lariboisière, Paris, France , Paris (France)
  • 18 Université de Paris, Paris, France , Paris (France)
  • 19 La Timone Children’s Hospital, Marseille, France , Marseille (France)
  • 20 Assistance Publique Hôpitaux de Marseille, La Timone Children’s Hospital, Marseille, France , Marseille (France)
Type
Published Article
Journal
Nature Communications
Publisher
Springer Nature
Publication Date
Sep 11, 2020
Volume
11
Issue
1
Identifiers
DOI: 10.1038/s41467-020-18146-9
Source
Springer Nature
License
Green

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.

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