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Genet Mol Res. 2014 Aug 15;13(3):6287-92. doi: 10.4238/2014.August.15.11.

Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?

Author information

1
Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
2
Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
3
Divisão de Gastroenterologia Pediátrica, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
4
Service de Dermatologie, Centre Hospitalier Universitaire, Université de Franche Comté, Besançon, France.
5
Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil spena@dcc.ufmg.br.

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.

PMID:
25158255
DOI:
10.4238/2014.August.15.11
[Indexed for MEDLINE]
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