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

• Published in: Nature genetics Vol. 45; no. 9; pp. 1077 - 1082
• Main Authors: Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.09.2013; Nature Publishing Group
• Subjects: 631/378; Agriculture; Amino Acid Substitution; Animal Genetics and Genomics; Animals; Basal Ganglia Diseases - diagnosis; Basal Ganglia Diseases - genetics; Basal Ganglia Diseases - pathology; Biomedicine; Bone density; Brain - metabolism; Brain - pathology; Brain diseases; Brain research; Calcification; Calcinosis - genetics; Cancer Research; Colleges & universities; Councils; Disease Models, Animal; Female; Gene Function; Gene Order; Genetic aspects; Human Genetics; Humans; letter; Magnetic Resonance Imaging; Male; Mice; Mice, Knockout; Mutation; NMR; Nuclear magnetic resonance; Pedigree; Platelet-derived growth factor; Proteins; Proto-Oncogene Proteins c-sis - genetics; Risk factors; Tomography, X-Ray Computed; Brazil; United States

Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic basal ganglia calcification. They also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications. Calcifications in the basa...