A novel duplication frameshift mutation in the BAG3 gene in a patient with dilated cardiomyopathy.

BACKGROUND/OBJECTIVES: Dilated cardiomyopathy (DCM) is characterized by heart failure and cardiac dilation, distinguishing it from ischemic and non-ischemic heart diseases. To date, more than 50 genes have been identified as being associated with DCM. Mutations in the Bcl-2-associated athanogene 3 (BAG3) gene (NM_004281.4) play a significant role in DCM pathogenesis. However, further investigation is required for comprehensive screening of BAG3 gene mutations. The identification of BAG3 mutations is crucial for diagnosing DCM and elucidating its molecular mechanisms. METHODS: To detect DCM-related gene mutations in the proband, next-generation sequencing was performed on DNA samples, with results subsequently confirmed through Sanger sequencing. RESULTS: A novel duplication frameshift mutation, c.633dup (p.His212ThrfsTer43), was identified within exon 3 of the BAG3 gene in a patient diagnosed with DCM. CONCLUSIONS: The detection of a novel duplication frameshift mutation, c.633dup, in the BAG3 gene contributes to the expanding knowledge of BAG3 mutations.