@article {300,
	title = {A recurrent PDGFRB mutation causes familial infantile myofibromatosis.},
	journal = {Am J Hum Genet},
	volume = {92},
	year = {2013},
	month = {2013 Jun 06},
	pages = {996-1000},
	abstract = {<p>Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor β (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-β as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-β in aggressive life-threatening familial forms of the disease.</p>},
	keywords = {Amino Acid Sequence, Female, Genes, Dominant, Genetic Association Studies, Germ-Line Mutation, Heterozygote, Humans, Male, Models, Molecular, Mutation, Missense, Myofibromatosis, Pedigree, Protein Structure, Tertiary, Receptor, Notch3, Receptor, Platelet-Derived Growth Factor beta, Receptors, Notch, Sequence Analysis, DNA},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2013.04.026},
	author = {Cheung, Yee Him and Gayden, Tenzin and Campeau, Philippe M and LeDuc, Charles A and Russo, Donna and Nguyen, Van-Hung and Guo, Jiancheng and Qi, Ming and Guan, Yanfang and Albrecht, Steffen and Moroz, Brenda and Eldin, Karen W and Lu, James T and Schwartzentruber, Jeremy and Malkin, David and Berghuis, Albert M and Emil, Sherif and Gibbs, Richard A and Burk, David L and Vanstone, Megan and Lee, Brendan H and Orchard, David and Boycott, Kym M and Chung, Wendy K and Jabado, Nada}
}
