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Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene

Larysa N Sivitskaya1, Nina G Danilenko1, Tatiyana G Vaikhanskaya2

  • 1Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|May 18, 2018
PubMed

Insights

This study identifies three novel pathogenic LMNA gene mutations causing dilated cardiomyopathy (DCM) with conduction defects, limb-girdle muscular dystrophy, and Emery-Dreifuss muscular dystrophy. These de novo mutations highlight the diverse clinical spectrum of laminopathies.

Area of Science:

  • Genetics
  • Cardiology
  • Neuromuscular Disorders

Background:

  • Dilated cardiomyopathy (DCM) with conduction defects, limb-girdle muscular dystrophy 1B, and Emery-Dreifuss muscular dystrophy 2 are distinct genetic disorders.
  • Mutations in the LMNA gene are known causes of various laminopathies, affecting cardiac and skeletal muscle.

Observation:

  • Three unrelated patients presented with distinct phenotypes: isolated DCM with conduction defects, syndromic DCM with limb-girdle muscular dystrophy, and syndromic DCM with Emery-Dreifuss muscular dystrophy.
  • Three novel heterozygous missense LMNA mutations (p.W520R, p.T528R, and p.R190P) were identified in these patients.

Findings:

  • These LMNA variants are considered pathogenic, causing the observed cardiac and muscular phenotypes.
  • The identified mutations were absent in control populations and occurred de novo within the families.
  • Mutations at the same codons have been previously associated with laminopathies, reinforcing their pathogenicity.

Implications:

  • These findings expand the mutational spectrum of LMNA-associated laminopathies.
  • Understanding these novel mutations aids in diagnosing and managing patients with DCM and muscular dystrophies.
  • The study underscores the importance of genetic testing for LMNA mutations in patients with unexplained cardiac and neuromuscular conditions.

Keywords:
Emery-Dreifuss muscular dystrophydilated cardiomyopathylimb-girdle muscular dystrophy

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