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

Research output: Contribution to journalArticlepeer-review

212 Scopus citations


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
Pages (from-to)579-581
Number of pages3
JournalNature Genetics
Issue number6
StatePublished - 27 May 2015
Externally publishedYes


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