XPR1基因的突变会导致与磷酸盐输出改变相关的原发性家族性脑钙化。
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
作者信息
Legati Andrea, Giovannini Donatella, Nicolas Gaël, López-Sánchez Uriel, Quintáns Beatriz, Oliveira João R M, Sears Renee L, Ramos Eliana Marisa, Spiteri Elizabeth, Sobrido María-Jesús, Carracedo Ángel, Castro-Fernández Cristina, Cubizolle Stéphanie, Fogel Brent L, Goizet Cyril, Jen Joanna C, Kirdlarp Suppachok, Lang Anthony E, Miedzybrodzka Zosia, Mitarnun Witoon, Paucar Martin, Paulson Henry, Pariente Jérémie, Richard Anne-Claire, Salins Naomi S, Simpson Sheila A, Striano Pasquale, Svenningsson Per, Tison François, Unni Vivek K, Vanakker Olivier, Wessels Marja W, Wetchaphanphesat Suppachok, Yang Michele, Boller Francois, Campion Dominique, Hannequin Didier, Sitbon Marc, Geschwind Daniel H, Battini Jean-Luc, Coppola Giovanni
机构信息
Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
出版信息
Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.
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.
原发性家族性脑钙化（PFBC）是一种神经系统疾病，其特征是基底神经节和其他脑区出现磷酸钙沉积，迄今为止已与SLC20A2、PDGFB或PDGFRB突变相关。我们在多个患有PFBC的家族中发现了XPR1基因突变，该基因编码一种具有磷酸盐输出功能的逆转录病毒受体。这些突变改变了磷酸盐输出，表明XPR1和磷酸盐稳态与PFBC有关。
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