Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati; Donatella Giovannini; Gaël Nicolas; Uriel López-Sánchez; Beatriz Quintáns; João R M de Oliveira; Renee L Sears; Eliana Marisa Ramos; Elizabeth Spiteri; María‐jesús Sobrido; Ángel M. Carracedo; Cristina Castro-Fernández; Stéphanie Cubizolle; Brent L. Fogel; Cyril Goizet; Joanna C Jen; Suppachok Kirdlarp; Anthony E. Lang; Zosia Miedzybrodzka; Witoon Mitarnun; Martin Paucar; Henry Paulson; Jérémie Pariente; Anne-Claire Richard; Naomi S Salins; Sheila Simpson; Pasquale Striano; Per Svenningsson; François Tison; Vivek K Unni; Olivier Vanakker; Marja Wessels; Suppachok Wetchaphanphesat; Michele Yang; François Boller; Dominique Campion; Didier Hannequin; Marc Sitbon; Daniel Geschwind; Jean-Luc Battini; Giovanni Coppola

doi:10.1038/ng.3289

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João R M de Oliveira, Renee L Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María‐jesús Sobrido, …

Nature Genetics, Vol.47(6), pp.579--81

2015

DOI: https://doi.org/10.1038/ng.3289

Résumé

Medical genetics

Neurodegenerative diseases

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.

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Titre: Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Créateurs - sans rôle: Andrea Legati - University of California, Los Angeles
Donatella Giovannini - Université de Montpellier, Institut de Génétique Moléculaire de Montpellier - IGMM
Gaël Nicolas - Université de Rouen Normandie
Uriel López-Sánchez - Université de Montpellier, Institut de Génétique Moléculaire de Montpellier - IGMM
Beatriz Quintáns - Fundación Pública Galega de Medicina Xenómica
João R M de Oliveira - Universidade Federal de Pernambuco
Renee L Sears - University of California, Los Angeles
Eliana Marisa Ramos - University of California, Los Angeles
Elizabeth Spiteri - University of California, Los Angeles
María‐jesús Sobrido - Instituto de Investigación Sanitaria de Santiago
Ángel M. Carracedo - Instituto de Investigación Sanitaria de Santiago
Cristina Castro-Fernández - Fundación Pública Galega de Medicina Xenómica
Stéphanie Cubizolle - Institut des Maladies Neurodégénératives
Brent L. Fogel - University of California, Los Angeles
Cyril Goizet - Service de génétique médicale
Joanna C Jen - University of California, Los Angeles
Suppachok Kirdlarp - Buriram Rajabhat University
Anthony E. Lang - Toronto Western Hospital
Zosia Miedzybrodzka - University of Aberdeen
Witoon Mitarnun - Buriram Rajabhat University
Martin Paucar - Karolinska Institutet
Henry Paulson - University of Michigan
Jérémie Pariente - Université Fédérale de Toulouse Midi-Pyrénées
Anne-Claire Richard - Université de Rouen Normandie
Naomi S Salins - Barrow Neurological Institute
Sheila Simpson - University of Aberdeen
Pasquale Striano - University of Genoa
Per Svenningsson - Karolinska Institutet
François Tison - Institut des Maladies Neurodégénératives
Vivek K Unni - Oregon Health & Science University
Olivier Vanakker - Ghent University Hospital
Marja Wessels - Erasmus MC
Suppachok Wetchaphanphesat - Buriram Rajabhat University
Michele Yang - Children's Hospital Colorado
François Boller - George Washington University
Dominique Campion - Centre Hospitalier du Rouvray
Didier Hannequin - Université de Rouen Normandie
Marc Sitbon - Université de Montpellier, Institut de Génétique Moléculaire de Montpellier - IGMM
Daniel Geschwind - University of California, Los Angeles
Jean-Luc Battini - Université de Montpellier, Institut de Génétique Moléculaire de Montpellier - IGMM
Giovanni Coppola - University of California, Los Angeles
Détails de publication: Nature Genetics, Vol.47(6), pp.579--81
Note de subvention: This work was funded by the US National Institutes of Health/National Institute of Neurological Disorders and Stroke (R01NS040752 to D.H.G.), by Association Française contre les Myopathies (AFM) and Ligue Nationale contre le Cancer (Comité de l'Hérault; to J.-L.B.), and by Fondation pour la Recherche Médicale (FRM) and a FEDER European Union Languedoc-Roussillon grant (Transportome; to M.S.). We also acknowledge the support of the National Institute of Neurological Disorders and Stroke Informatics Center for Neurogenetics and Neurogenomics (PSNS062691). D.G. was supported by FRM, Institut National du Cancer (INCa) and Labex GR-Ex (ANR-11-LABX-0051) fellowships, and U.L.-S. was supported by a Labex EpiGenMed (ANR-10-LABX-12-01) fellowship; Labex is funded by the program 'Investissements d'Avenir' of the French National Research Agency. J.-L.B. and M.S. were supported by INSERM. M.-J.S. and B.Q. are supported by the Fondo de Investigación Sanitaria, grant PI12/00742; INNOPHARMA project MINECO-USC; and FEDER funds. M.-J.S. and B.Q. hold research contracts from the Institute of Health Carlos III–SERGAS. J.R.M.O. acknowledges funding from FACEPE (APQ 1831-4.01/12) and CNPq (457556/2013-7; 480255/2013-0; 307909/2012-3). B.L.F. is funded by US National Institutes of Health grants K08MH086297 (National Institute of Mental Health) and R01NS082094 (National Institute of Neurological Disorders and Stroke). G.N., A.-C.R., D.H. and D.C. are supported by INSERM, the University Hospital of Rouen and the French CNR-MAJ.
Identifiants: 99151463309311
Unité académique: Institut de Génétique Moléculaire de Montpellier - IGMM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-02187402