Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandra K. Masur, Cecilia E. Kim, Frederick G. Otieno, Cuiping Hou, Nada Abdel-Magid, Ben Tweddale, Denise Metry, Jean-Christophe Fournet, Eniko Papp, Elizabeth W. McPherson, Carrie Zabel, Guy Vaksmann, Cyril Morisot, Brendan Keating, Patrick M. Sleiman, Jeffrey A. Cleveland, David B. Everman, Elaine Zackai, Hakon Hakonarson The American Journal of Human Genetics Volume 92, Issue 6, Pages 1001-1007 (June 2013) DOI: 10.1016/j.ajhg.2013.04.024 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Nine Unrelated IM Families The inheritance pattern in all the families used in this study was consistent with autosomal-dominant transmission. Five families have been previously reported: IM-1,14 IM-2,15 IM-6,14 IM-7,16 IM-8.17 Asterisk indicates that these samples were whole-exome sequenced. The American Journal of Human Genetics 2013 92, 1001-1007DOI: (10.1016/j.ajhg.2013.04.024) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Mutations in PDGFRB and NOTCH3 (A) Representative sequence chromatograms for each of the different mutations identified. (B) Conservation of the mutations and the surrounding region in vertebrates. Arrows indicate the positions of the mutated alleles. The American Journal of Human Genetics 2013 92, 1001-1007DOI: (10.1016/j.ajhg.2013.04.024) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 3 Tumor Cell Lines Derived from Affected Individuals Demonstrate a Myofibroblastic Phenotype Vimentin (green) and a-SMA (red) staining of tumor cell lines from members of family IM-9. Cells were cultured from a soft-tissue tumor excised from an affected area on the affected individual’s back as part of their care. Three paired views at 20× (left column) and 40× (right column) are shown. The American Journal of Human Genetics 2013 92, 1001-1007DOI: (10.1016/j.ajhg.2013.04.024) Copyright © 2013 The American Society of Human Genetics Terms and Conditions