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

• Published in: Nature genetics Vol. 47; no. 6; pp. 579 - 81
• Main Authors: Legati, A., Giovannini, D., Nicolas, G., Lopez-Sanchez, U., Quintans, B., Oliveira, J. R., Sears, R. L., Ramos, E. M., Spiteri, E., Sobrido, M. J., Carracedo, A., Castro-Fernandez, C., Cubizolle, S., Fogel, B. L., Goizet, C., Jen, J. C., Kirdlarp, S., Lang, A. E., Miedzybrodzka, Z., Mitarnun, W., Paucar, M., Paulson, H., Pariente, J., Richard, A. C., Salins, N. S., Simpson, S. A., Striano, P., Svenningsson, P., Tison, F., Unni, V. K., Vanakker, O., Wessels, M. W., Wetchaphanphesat, S., Yang, M., Boller, F., Campion, D., Hannequin, D., Sitbon, M., Geschwind, D. H., Battini, J. L., Coppola, G.
• Format: Journal Article
• Language: English
• Published: Nature Publishing Group 2015
• Subjects: Biochemistry, Molecular Biology; Life Sciences
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.3289ng.3289[pii]

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.