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

ABSTRACT:

Background

MYBPC3 mutations have been described in dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). A mutation, c.3373G>A, has been reported to cause autosomal recessive form of HCM. Here, we report that this mutation can cause autosomal dominant form of DCM.

Methods

Next-generation sequencing using targeted panel of a total of 23 candidate genes and following Sanger sequencing was applied to detect causal mutations of DCM. Computational analyses were also performed using available software tools. In silico structural and functional analyses including protein modeling and prediction were done for the mutated MYBPC3 protein.

Results and conclusion

Targeted sequencing showed one variant c.3373G>A (p.Val1125Met) in the studied family following autosoma

SUBMITTER: Mahdieh N 

PROVIDER: S-EPMC6817065 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature