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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Estadísticas
Estadísticas
Identificadores
Identificadores
URI: http://hdl.handle.net/20.500.11940/8250
PMID: 25938945
ISSN: 1061-4036
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Fecha de publicación
2015
Título de revista
NATURE GENETICS
Tipo de contenido
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
Resumen
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.