Key result
Sequencing identifies a novel BAG3 frameshift mutation in a patient with DCM.
Why the study?
BAG3 gene mutations play a significant role in DCM pathogenesis, but further investigation is required for comprehensive screening to aid diagnosis and elucidate molecular mechanisms.
Case Report (n=1)
No
Answers are grounded in this paper and cite their sources.
The identification of a novel duplication frameshift mutation (c.633dup) in the BAG3 gene expands the known genetic spectrum of dilated cardiomyopathy.
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. To detect DCM-related gene mutations in the proband, next-generation sequencing was performed on DNA samples, with results subsequently confirmed through Sanger sequencing. A novel duplication frameshift mutation, c.633dup (p.His212ThrfsTer43), was identified within exon 3 of the BAG3 gene in a patient diagnosed with DCM. The detection of a novel duplication frameshift mutation, c.633dup, in the BAG3 gene contributes to the expanding knowledge of BAG3 mutations.
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Zhang et al. (2026) conducted a case report in Dilated cardiomyopathy (n=1). Next-generation sequencing and Sanger sequencing was evaluated on Identification of DCM-related gene mutations. A novel duplication frameshift mutation, c.633dup, was identified within exon 3 of the BAG3 gene in a patient with dilated cardiomyopathy.
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