PDGFRB-associated infantile myofibromatosis

Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB).

Open references

 Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F, Pena SD. Genet Mol Res. 2014 Aug 15;13(3):6287-92. doi : 10.4238/2014.August.15.11 PMID: 25158255 [Free]

 A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi : 10.1016/j.ajhg.2013.04.026 PMID: 23731537 [Free]

 Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi : 10.1016/j.ajhg.2013.04.024 PMID: 23731542 [Free]

References

 Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Lee JW. Clin Genet. 2013 Oct;84(4):340-1. doi : 10.1111/cge.12238 PMID: 23865785