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

Legati, A.; Giovannini, D.; Nicolas, G.; López-Sánchez, U.; Quintans Castro, Beatriz; Oliveira, J. R. M.; Sears, R. L.; Ramos, E. M.; Spiteri, E.; Sobrido Gómez, María Jesús; Carracedo Álvarez, Ángel; Castro Fernández, Cristina; 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.
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URI: http://hdl.handle.net/20.500.11940/8250
PMID: 25938945
ISSN: 1061-4036
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Date issued
2015
Journal title
NATURE GENETICS
Type of content
Artigo
MeSH
Brain Diseases, Metabolic, Inborn | Calcinosis | DNA Mutational Analysis | Female | Genetic Association Studies | Genetic Predisposition to Disease | HEK293 Cells | Humans | Lod Score | Male | Middle Aged | Mutation, Missense | Neurodegenerative Diseases | Pedigree | Receptors, G-Protein-Coupled | Receptors, Virus
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.