Mutations in XPR1 Cause Primary Familial Brain Calcification Associated With Altered Phosphate Export

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases, Metabolic, Inborn / genetics*
  • Calcinosis / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • HEK293 Cells
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Mutation, Missense
  • Neurodegenerative Diseases / genetics
  • Pedigree
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, Virus / genetics*

Substances

  • Receptors, G-Protein-Coupled
  • Receptors, Virus
  • xenotropic and polytropic retrovirus receptor