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    Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
    Genet Mol Res 2014 Aug 15;13(3):6287-92. Epub 2014 Aug 15.
    Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
    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). We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. However, the unaffected mother also had the same PDGFRB mutation. We showed that both children had also inherited from their healthy father a heterozygous mutation in the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme known to dephosphorylate PDGFRB. We suggest that in this family, the additional mutation in PTPRG may explain the full phenotypic penetrance in the siblings affected, in comparison with the unaffected mother.

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    Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
    Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:
    Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. Read More
    A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
    Am J Hum Genet 2013 Jun 23;92(6):996-1000. Epub 2013 May 23.
    Department of Pediatrics, Columbia University, New York, NY 10032, USA.
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    Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
    Eur J Med Genet 2014 Nov-Dec;57(11-12):643-8. Epub 2014 Sep 18.
    Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Laboratório Gene - Núcleo de Genética Médica, Belo Horizonte, Brazil. Electronic address:
    Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors. Read More