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

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 plate...

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Bibliographic Details
Published in:Genetics and molecular research 2014-08, Vol.13 (3), p.6287-6292
Main Authors: Linhares, N D, Freire, M C M, Cardenas, R G C C L, Bahia, M, Puzenat, E, Aubin, F, Pena, S D J
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Child
Exome
Female
Gene Expression Regulation
Genes, Modifier
Genotype
Heterozygote
Homozygote
Humans
Male
Molecular Sequence Data
Mutation
Myofibromatosis - congenital
Myofibromatosis - genetics
Myofibromatosis - pathology
Pedigree
Penetrance
Phenotype
Receptor, Platelet-Derived Growth Factor beta - genetics
Receptor-Like Protein Tyrosine Phosphatases, Class 5 - genetics
Siblings
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Summary: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.
ISSN:1676-5680
DOI:10.4238/2014.August.15.11