title: Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
abstract: 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.
authors.affiliation: Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
authors.forename: N D
authors.initials: ND
authors.lastname: Linhares
authors.affiliation: Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
authors.forename: M C M
authors.initials: MC
authors.lastname: Freire
authors.affiliation: Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
authors.forename: R G C C L
authors.initials: RG
authors.lastname: Cardenas
authors.affiliation: Divisão de Gastroenterologia Pediátrica, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
authors.forename: M
authors.initials: M
authors.lastname: Bahia
authors.affiliation: Service de Dermatologie, Centre Hospitalier Universitaire, Université de Franche Comté, Besançon, France.
authors.forename: E
authors.initials: E
authors.lastname: Puzenat
authors.affiliation: Service de Dermatologie, Centre Hospitalier Universitaire, Université de Franche Comté, Besançon, France.
authors.forename: F
authors.initials: F
authors.lastname: Aubin
authors.affiliation: Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil spena@dcc.ufmg.br.
authors.forename: S D J
authors.initials: SD
authors.lastname: Pena
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D059472:Exome; D005260:Female; D005786:Gene Expression Regulation; D060045:Genes, Modifier; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018224:Myofibromatosis / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5 / Q000235:genetics*; D035781:Siblings
chemical_list: D020797:Receptor, Platelet-Derived Growth Factor beta; C516850:PTPRG protein, human; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5