Title

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

Department

neurology

Document Type

Article

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.

Medical Subject Headings

neurology

Publication Date

2015

Publication Title

Nature Genetics

ISSN

10614036

Volume

47

Issue

6

First Page

579

Last Page

581

Digital Object Identifier (DOI)

10.1038/ng.3289

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