Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance.
Nejat MahdiehMaryam Hosseini MoghaddamMahsa MotavafAhmad RabbaniMahdieh SoveiziMajid MalekiBahareh RabbaniAzin Alizadeh-AslPublished in: Journal of clinical laboratory analysis (2018)
Targeted sequencing showed one variant c.3373G>A (p.Val1125Met) in the studied family following autosomal dominant inheritance. Computational programs predicted a high score of pathogenicity. Secondary structure of the region surrounding p.Val1125 was changed to a shortened beta-strand based on prediction of I-TASSER and Phyre2 servers with high confidence value for the mutation. cMyBP-C protein was modeled to 3dmkA. Our findings suggest that one single mutation of MYBPC3 may have different effects on the cellular mechanisms based of its zygosity. Various factors might be considered for explaining this phenomenon. This gene may have an important role in Iranian DCM and HCM patients.
Keyphrases
- hypertrophic cardiomyopathy
- end stage renal disease
- mitochondrial dna
- copy number
- ejection fraction
- newly diagnosed
- chronic kidney disease
- public health
- peritoneal dialysis
- left ventricular
- small molecule
- tyrosine kinase
- single cell
- heart failure
- genome wide identification
- cancer therapy
- staphylococcus aureus
- gene expression
- protein protein
- biofilm formation
- amino acid
- cystic fibrosis