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

First Author	Keller A	Year	2013
Journal	Nat Genet	Volume	45
Issue	9	Pages	1077-82
PubMed ID	23913003	Mgi Jnum	J:205303
Mgi Id	MGI:5544540	Doi	10.1038/ng.2723
Citation	Keller A, et al. (2013) Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 45(9):1077-82

abstractText

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 beta (PDGF-Rbeta) 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-Rbeta. 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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