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 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

David Geffen School of Medicine at UCLA
Kaiser Permanente
Institut de Génétique Moléculaire de Montpellier
University of Montpellier
Laboratory of Excellence GR-Ex
Laboratory of Excellence EpiGenMed
Université René-Descartes
Centre Hospitalier Universitaire Rouen (Center Hospitalier Universitaire de Rouen)
Hospital Clínico Universitario de Santiago
Universidade de Santiago de Compostela
Federal University of Pernambuco
Washington University School of Medicine in St. Louis
University Hospital of Bordeaux
Buriram Hospital
Toronto Western Hospital University of Toronto
University of Aberdeen
Karolinska Institutet
Karolinska Institutet and Karolinska University Hospital
University of Michigan, Ann Arbor
Toulouse University Hospital
Université de Toulouse
Barrow Neurological Institute
Università degli Studi di Genova
Oregon Health & Science University
Ghent University Hospital
Erasmus Medical Center
University of Colorado
The George Washington University School of Medicine and Health Sciences
Rouvray Psychiatric Hospital

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

287 Citations (Scopus)

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
DOIs	https://doi.org/10.1038/ng.3289
Publication status	Published - 27 May 2015
Externally published	Yes

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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

@article{a4c4872a54df4771bc740e19cbcf47bd,

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",

year = "2015",

month = may,

day = "27",

doi = "10.1038/ng.3289",

language = "English",

volume = "47",

pages = "579--581",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "6",

}

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

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

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.

UR - https://www.scopus.com/pages/publications/84930087279

U2 - 10.1038/ng.3289

DO - 10.1038/ng.3289

M3 - Article

C2 - 25938945

AN - SCOPUS:84930087279

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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