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

Neurology

Research output: Contribution to journal › Article › peer-review

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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 (US)
Pages (from-to)	579-581
Number of pages	3
Journal	Nature genetics
Volume	47
Issue number	6
DOIs	https://doi.org/10.1038/ng.3289
State	Published - May 27 2015

ASJC Scopus subject areas

Genetics

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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, MJ, 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, AC, 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, JL & 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

@article{62185a8e130948b3a1984e26740124c3,

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.",

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 Sobrido, {Mar{\'i}a Jes{\'u}s} 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 Richard, {Anne Claire} 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 Battini, {Jean Luc} and Giovanni Coppola",

note = "Funding Information: 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{\textquoteright}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{\textquoteright}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 {\textquoteleft}Investissements d{\textquoteright}Avenir{\textquoteright} 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. Publisher Copyright: {\textcopyright} 2015 Nature America, Inc. All rights reserved.",

year = "2015",

month = may,

day = "27",

doi = "10.1038/ng.3289",

language = "English (US)",

volume = "47",

pages = "579--581",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "6",

}

TY - JOUR

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 - Funding Information: 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. Publisher Copyright: © 2015 Nature America, Inc. All rights reserved.

PY - 2015/5/27

Y1 - 2015/5/27

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.

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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

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