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Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with

A Janin1,2, K N'Guyen3, G Habib4

  • 1Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.

Clinical Genetics
|April 25, 2017
PubMed

Insights

Genetic testing reveals truncating variants in myofibrillar myopathy genes, FLNC and BAG3, are common in dilated cardiomyopathy (DCM) patients. This finding aids earlier diagnosis and treatment for heart failure.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, characterized by high morbidity and mortality.
  • Over 40 genes are implicated in DCM pathogenesis.
  • Understanding the genetic underpinnings of DCM is crucial for improved diagnostics and therapeutics.

Purpose of the Study:

  • To investigate the role of myofibrillar myopathy-associated genes in a cohort of DCM patients.
  • To identify novel genetic variants contributing to DCM pathophysiology.
  • To assess the diagnostic yield of next-generation sequencing (NGS) for DCM.

Main Methods:

  • A cohort of 222 DCM patients was analyzed using a next-generation sequencing (NGS) panel targeting 48 cardiomyopathy-associated genes.
  • Truncating variants were identified and characterized.
  • Variant data was correlated with clinical diagnoses.

Main Results:

  • Truncating variants were detected in 28.4% of DCM patients.
  • While TTN variants were most frequent, significant numbers of truncating variants were found in myofibrillar myopathy genes FLNC (10 patients) and BAG3 (7 patients).
  • These variants in FLNC and BAG3 accounted for 7.7% of the DCM cohort.

Conclusions:

  • Truncating variants in myofibrillar myopathy genes, particularly FLNC, are frequently associated with DCM.
  • FLNC mutations should be considered a common cause of dilated cardiomyopathy.
  • Systematic detection of truncating variants in FLNC and BAG3 via genetic testing can enhance diagnostic sensitivity, enabling earlier intervention for DCM patients.

Keywords:
arrhythmiadilated cardiomyopathyfilamin Cmolecular diagnosissudden death

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