Related Experiment Video
Updated: Apr 25, 2026
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
N D Linhares1, M C M Freire2, R G C C L Cardenas1
1Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
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.
Insights
Infantile myofibromatosis, a rare genetic disorder, may involve mutations in PDGFRB and PTPRG genes. A family study suggests PTPRG mutations might influence disease presentation in affected siblings.
Area of Science:
- Genetics
- Molecular Biology
- Dermatology
Background:
- Infantile myofibromatosis is a rare genetic disorder causing benign tumors.
- Its molecular basis, particularly the role of platelet-derived growth factor receptor beta (PDGFRB) mutations, is not fully understood.
- Previous studies linked autosomal dominant forms to PDGFRB gene mutations.
Purpose of the Study:
- To investigate the genetic underpinnings of infantile myofibromatosis in a family with affected siblings.
- To explore the potential role of mutations in PDGFRB and receptor protein tyrosine phosphatase gamma (PTPRG) genes.
- To understand the genetic factors influencing phenotypic penetrance.
Main Methods:
- Exome sequence analysis was performed on affected siblings and their parents.
- Genetic mutations in the PDGFRB and PTPRG genes were identified.
- Segregation analysis of identified mutations within the family was conducted.
Main Results:
- Two siblings with infantile myofibromatosis were found to have a PDGFRB mutation.
- The unaffected mother carried the same PDGFRB mutation.
- Both affected children inherited a heterozygous PTPRG mutation from their unaffected father.
Conclusions:
- The identified PDGFRB mutation alone did not fully explain the disease in the family.
- The co-inheritance of a PTPRG mutation in affected siblings, but not the mother, may account for full phenotypic penetrance.
- This suggests a potential digenic inheritance pattern for infantile myofibromatosis in this family.
Related Concept Videos
01:33Pleiotropy
02:23Abnormal Proliferation