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      Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

      Nature genetics
      Amino Acid Substitution, Animals, Basal Ganglia Diseases, diagnosis, genetics, pathology, Brain, metabolism, Calcinosis, Disease Models, Animal, Female, Gene Order, Humans, Magnetic Resonance Imaging, Male, Mice, Mice, Knockout, Mutation, Pedigree, Proto-Oncogene Proteins c-sis, Tomography, X-Ray Computed

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          Abstract

          Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rβ. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.

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