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

A Legati, D Giovannini, G Nicolas, U Lopez-Sanchez, B Quintans, JRM Oliveira, RL Sears, EM Ramos, E Spiteri, MJ Sobrido, A Carracedo, C Castro-Fernandez, S Cubizolle, BL Fogel, C Goizet, JC Jen, S Kirdlarp, AE Lang, Z Miedzybrodzka, W MitarnunM Paucar, H Paulson, J Pariente, AC Richard, NS Salins, SA Simpson, P Striano, P Svenningsson, F Tison, VK Unni, O Vanakker, Marja Wessels, S Wetchaphanphesat, M Yang, F Boller, D Campion, D Hannequin, M Sitbon, DH Geschwind, JL Battini, G Coppola

Research output: Contribution to journalArticleAcademicpeer-review

219 Citations (Scopus)


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 languageUndefined/Unknown
Pages (from-to)579-581
Number of pages3
JournalNature Genetics
Issue number6
Publication statusPublished - 2015

Research programs

  • EMC MGC-02-96-01

Cite this