Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance

ConclusionTargeted 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.

Source: Journal of Clinical Laboratory Analysis - February 1, 2018 Category: Laboratory Medicine Authors: Nejat Mahdieh, Maryam Hosseini Moghaddam, Mahsa Motavaf, Ahmad Rabbani, Mahdieh Soveizi, Majid Maleki, Bahareh Rabbani, Azin Alizadeh ‐asl Tags: RESEARCH ARTICLE Source Type: research