Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Andrea LegatiDonatella GiovanniniGaël NicolasUriel López-SánchezBeatriz QuintánsJoão R M OliveiraRenee L SearsEliana Marisa RamosElizabeth SpiteriMaría-Jesús SobridoÁngel CarracedoCristina Castro-FernándezStéphanie CubizolleBrent L FogelCyril GoizetJoanna C JenSuppachok KirdlarpAnthony E LangZosia MiedzybrodzkaWitoon MitarnunMartin PaucarHenry PaulsonJérémie ParienteAnne-Claire RichardNaomi S SalinsSheila A SimpsonPasquale StrianoPer SvenningssonFrançois TisonVivek K UnniOlivier VanakkerMarja W WesselsSuppachok WetchaphanphesatMichele YangFrancois BollerDominique CampionDidier HannequinMarc SitbonDaniel H GeschwindJean-Luc BattiniGiovanni CoppolaPublished in: Nature genetics (2015)
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.