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 Oliveira; Renee L Sears; Eliana Marisa Ramos; Elizabeth Spiteri; María-Jesús Sobrido; Ángel 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 A Simpson; Pasquale Striano; Per Svenningsson; François Tison; Vivek K Unni; Olivier Vanakker; Marja W Wessels; Suppachok Wetchaphanphesat; Michele Yang; Francois Boller; Dominique Campion; Didier Hannequin; Marc Sitbon; Daniel H Geschwind; Jean-Luc Battini; Giovanni Coppola

doi:10.1038/ng.3289

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 Oliveira, Renee L Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L Fogel, Cyril Goizet, Joanna C Jen, Suppachok Kirdlarp, Anthony E Lang, Zosia Miedzybrodzka, Witoon MitarnunMartin Paucar, Henry Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi S Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K Unni, Olivier Vanakker, Marja W Wessels, Suppachok Wetchaphanphesat, Michele Yang, Francois Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H Geschwind, Jean-Luc Battini, Giovanni Coppola

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Abstract

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.

Original language	English
Pages (from-to)	579-581
Number of pages	3
Journal	Nature Genetics
Volume	47
Issue number	6
Early online date	4 May 2015
DOIs	https://doi.org/10.1038/ng.3289
Publication status	Published - Jun 2015

Bibliographical note

Date of Acceptance: 06/05/2015

Acknowledgments
We acknowledge and thank all of the participants and families for their valuable contributions to our study; our clinical staff and laboratory members, J. DeYoung and the University of California Los Angeles (UCLA) Neuroscience Genomics Core, J. Touhami and J. Laval for their assistance and constant support; and the National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the Women's Health Initiative (WHI) Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926) and the Heart GO Sequencing Project (HL-103010). We are also indebted to the Montpellier Rio Imaging (MRI) platform for flow cytometry experiments. 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.

Keywords

medical genetics
neurodegenerative diseases

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Zosia Miedzybrodzka
Person: Clinical Academic

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Legati, A., Giovannini, D., Nicolas, G., López-Sánchez, U., Quintáns, B., Oliveira, J. R. M., Sears, R. L., Ramos, E. M., Spiteri, E., Sobrido, M-J., Carracedo, Á., Castro-Fernández, C., Cubizolle, S., Fogel, B. L., Goizet, C., Jen, J. C., Kirdlarp, S., Lang, A. E., Miedzybrodzka, Z., ... Coppola, G. (2015). Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics, 47(6), 579-581. https://doi.org/10.1038/ng.3289

Legati, A, Giovannini, D, Nicolas, G, López-Sánchez, U, Quintáns, B, Oliveira, JRM, Sears, RL, Ramos, EM, Spiteri, E, Sobrido, M-J, Carracedo, Á, Castro-Fernández, C, Cubizolle, S, Fogel, BL, Goizet, C, Jen, JC, Kirdlarp, S, Lang, AE, Miedzybrodzka, Z, Mitarnun, W, Paucar, M, Paulson, H, Pariente, J, Richard, A-C, Salins, NS, Simpson, SA, Striano, P, Svenningsson, P, Tison, F, Unni, VK, Vanakker, O, Wessels, MW, Wetchaphanphesat, S, Yang, M, Boller, F, Campion, D, Hannequin, D, Sitbon, M, Geschwind, DH, Battini, J-L & Coppola, G 2015, 'Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export', Nature Genetics, vol. 47, no. 6, pp. 579-581. https://doi.org/10.1038/ng.3289

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title = "Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export",

abstract = "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.",

keywords = "medical genetics, neurodegenerative diseases",

author = "Andrea Legati and Donatella Giovannini and Ga{\"e}l Nicolas and Uriel L{\'o}pez-S{\'a}nchez and Beatriz Quint{\'a}ns and Oliveira, {Jo{\~a}o R M} and Sears, {Renee L} and Ramos, {Eliana Marisa} and Elizabeth Spiteri and Mar{\'i}a-Jes{\'u}s Sobrido and {\'A}ngel Carracedo and Cristina Castro-Fern{\'a}ndez and St{\'e}phanie Cubizolle and Fogel, {Brent L} and Cyril Goizet and Jen, {Joanna C} and Suppachok Kirdlarp and Lang, {Anthony E} and Zosia Miedzybrodzka and Witoon Mitarnun and Martin Paucar and Henry Paulson and J{\'e}r{\'e}mie Pariente and Anne-Claire Richard and Salins, {Naomi S} and Simpson, {Sheila A} and Pasquale Striano and Per Svenningsson and Fran{\c c}ois Tison and Unni, {Vivek K} and Olivier Vanakker and Wessels, {Marja W} and Suppachok Wetchaphanphesat and Michele Yang and Francois Boller and Dominique Campion and Didier Hannequin and Marc Sitbon and Geschwind, {Daniel H} and Jean-Luc Battini and Giovanni Coppola",

note = "Date of Acceptance: 06/05/2015 Acknowledgments We acknowledge and thank all of the participants and families for their valuable contributions to our study; our clinical staff and laboratory members, J. DeYoung and the University of California Los Angeles (UCLA) Neuroscience Genomics Core, J. Touhami and J. Laval for their assistance and constant support; and the National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the Women's Health Initiative (WHI) Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926) and the Heart GO Sequencing Project (HL-103010). We are also indebted to the Montpellier Rio Imaging (MRI) platform for flow cytometry experiments. 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 Fran{\c c}aise contre les Myopathies (AFM) and Ligue Nationale contre le Cancer (Comit{\'e} de l'H{\'e}rault; to J.-L.B.), and by Fondation pour la Recherche M{\'e}dicale (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 Investigaci{\'o}n 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.",

year = "2015",

month = jun,

doi = "10.1038/ng.3289",

language = "English",

volume = "47",

pages = "579--581",

journal = "Nature Genetics",

issn = "1061-4036",

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T1 - Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

AU - Legati, Andrea

AU - Giovannini, Donatella

AU - Nicolas, Gaël

AU - López-Sánchez, Uriel

AU - Quintáns, Beatriz

AU - Oliveira, João R M

AU - Sears, Renee L

AU - Ramos, Eliana Marisa

AU - Spiteri, Elizabeth

AU - Sobrido, María-Jesús

AU - Carracedo, Ángel

AU - Castro-Fernández, Cristina

AU - Cubizolle, Stéphanie

AU - Fogel, Brent L

AU - Goizet, Cyril

AU - Jen, Joanna C

AU - Kirdlarp, Suppachok

AU - Lang, Anthony E

AU - Miedzybrodzka, Zosia

AU - Mitarnun, Witoon

AU - Paucar, Martin

AU - Paulson, Henry

AU - Pariente, Jérémie

AU - Richard, Anne-Claire

AU - Salins, Naomi S

AU - Simpson, Sheila A

AU - Striano, Pasquale

AU - Svenningsson, Per

AU - Tison, François

AU - Unni, Vivek K

AU - Vanakker, Olivier

AU - Wessels, Marja W

AU - Wetchaphanphesat, Suppachok

AU - Yang, Michele

AU - Boller, Francois

AU - Campion, Dominique

AU - Hannequin, Didier

AU - Sitbon, Marc

AU - Geschwind, Daniel H

AU - Battini, Jean-Luc

AU - Coppola, Giovanni

N1 - Date of Acceptance: 06/05/2015 Acknowledgments We acknowledge and thank all of the participants and families for their valuable contributions to our study; our clinical staff and laboratory members, J. DeYoung and the University of California Los Angeles (UCLA) Neuroscience Genomics Core, J. Touhami and J. Laval for their assistance and constant support; and the National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the Women's Health Initiative (WHI) Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926) and the Heart GO Sequencing Project (HL-103010). We are also indebted to the Montpellier Rio Imaging (MRI) platform for flow cytometry experiments. 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.

PY - 2015/6

Y1 - 2015/6

N2 - 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.

AB - 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.

KW - medical genetics

KW - neurodegenerative diseases

U2 - 10.1038/ng.3289

DO - 10.1038/ng.3289

M3 - Article

C2 - 25938945

SN - 1061-4036

VL - 47

SP - 579

EP - 581

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

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

Abstract

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