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Background/Objectives <p>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 <i>Bcl-2-associated athanogene 3 (BAG3)</i> gene (NM_004281.4) play a significant role in DCM pathogenesis. However, further investigation is required for comprehensive screening of <i>BAG3</i> gene mutations. The identification of <i>BAG3</i> mutations is crucial for diagnosing DCM and elucidating its molecular mechanisms.</p> Methods <p>To detect DCM-related gene mutations in the proband, next-generation sequencing was performed on DNA samples, with results subsequently confirmed through Sanger sequencing.</p> Results <p>A novel duplication frameshift mutation, c.633dup (p.His212ThrfsTer43), was identified within exon 3 of the <i>BAG3</i> gene in a patient diagnosed with DCM.</p> Conclusions <p>The detection of a novel duplication frameshift mutation, c.633dup, in the <i>BAG3</i> gene contributes to the expanding knowledge of <i>BAG3</i> mutations.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月18日

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  • Wei Zhang,
  • Kaihang Xu,
  • Shiguang Liu,
  • Juan Chen,
  • Hua Jiang

摘要

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.