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

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 g...

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Detalles Bibliográficos
Autores: 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.
Tipo de recurso: artículo
Fecha de publicación:2015
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/8250
Acceso en línea:http://hdl.handle.net/20.500.11940/8250
Access Level:acceso abierto
Palabra clave: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
Descripción
Sumario: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.

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