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 & 21 others Martin Paucar, Henry Paulson, Jérémie Pariente, Anne Claire Richard, Naomi S. Salins, Sheila A. Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek 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

Research output: Contribution to journalArticle

104 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 languageEnglish (US)
Pages (from-to)579-581
Number of pages3
JournalNature Genetics
Volume47
Issue number6
DOIs
StatePublished - May 27 2015

Fingerprint

Phosphates
Mutation
Brain
Proto-Oncogene Proteins c-sis
Platelet-Derived Growth Factor beta Receptor
Basal Ganglia
Homeostasis
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Legati, A., Giovannini, D., Nicolas, G., López-Sánchez, U., Quintáns, B., Oliveira, J. R. M., ... 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

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. / Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël; López-Sánchez, Uriel; Quintáns, Beatriz; Oliveira, João R M; Sears, Renee L.; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, María Jesús; Carracedo, Ángel; Castro-Fernández, Cristina; Cubizolle, Stéphanie; Fogel, Brent L.; Goizet, Cyril; Jen, Joanna C.; Kirdlarp, Suppachok; Lang, Anthony E.; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jérémie; Richard, Anne Claire; Salins, Naomi S.; Simpson, Sheila A.; Striano, Pasquale; Svenningsson, Per; Tison, François; Unni, Vivek; Vanakker, Olivier; Wessels, Marja W.; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Didier; Sitbon, Marc; Geschwind, Daniel H.; Battini, Jean Luc; Coppola, Giovanni.

In: Nature Genetics, Vol. 47, No. 6, 27.05.2015, p. 579-581.

Research output: Contribution to journalArticle

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, V, 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
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JRM et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. 2015 May 27;47(6):579-581. https://doi.org/10.1038/ng.3289
Legati, Andrea ; Giovannini, Donatella ; Nicolas, Gaël ; López-Sánchez, Uriel ; Quintáns, Beatriz ; Oliveira, João R M ; Sears, Renee L. ; Ramos, Eliana Marisa ; Spiteri, Elizabeth ; Sobrido, María Jesús ; Carracedo, Ángel ; Castro-Fernández, Cristina ; Cubizolle, Stéphanie ; Fogel, Brent L. ; Goizet, Cyril ; Jen, Joanna C. ; Kirdlarp, Suppachok ; Lang, Anthony E. ; Miedzybrodzka, Zosia ; Mitarnun, Witoon ; Paucar, Martin ; Paulson, Henry ; Pariente, Jérémie ; Richard, Anne Claire ; Salins, Naomi S. ; Simpson, Sheila A. ; Striano, Pasquale ; Svenningsson, Per ; Tison, François ; Unni, Vivek ; Vanakker, Olivier ; Wessels, Marja W. ; Wetchaphanphesat, Suppachok ; Yang, Michele ; Boller, Francois ; Campion, Dominique ; Hannequin, Didier ; Sitbon, Marc ; Geschwind, Daniel H. ; Battini, Jean Luc ; Coppola, Giovanni. / Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. In: Nature Genetics. 2015 ; Vol. 47, No. 6. pp. 579-581.
@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{\cc}ois Tison and Vivek Unni 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 = "5",
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

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 - http://www.scopus.com/inward/record.url?scp=84930087279&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84930087279&partnerID=8YFLogxK

U2 - 10.1038/ng.3289

DO - 10.1038/ng.3289

M3 - Article

VL - 47

SP - 579

EP - 581

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 6

ER -