A novel duplication frame-shift mutation in the BAG3 gene in a patient with dilated cardiomyopathy

Background/Objectives: Dilated cardiomyopathy (DCM) is characterized by heart failure and a dilated heart and is different from ischemic and non-ischemic heart disease. To date, more than 50 genes have been found associated with DCM. Bcl–2–associated athanogene 3(BAG3) gene mutation plays a critical role in DCM. However, BAG3 gene mutation screening requires further research. Identifying BAG3 mutations is important for diagnosing DCM and exploring its molecular mechanism. Methods: For detecting DCM-related gene mutations in the proband, next-generation sequencing was carried out on DNA samples and the results were verified through Sanger sequencing. Results : A novel duplication frame-shift mutation, c.633dup (p.His212ThrfsTer43), was detected, within exon 3 in the BAG3 gene from the patient with DCM. Conclusions : A novel duplication frame-shift mutation, c.633dup, was detected in the BAG3 gene. Results in this study expanded the BAG3 gene mutations and promoted DCM diagnosis.