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Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal

J Juan-Mateu1, C Paradas, M Olivé

  • 1Genetics Department, Hospital Sant Pau, CIBERER, Barcelona, Spain.

Clinical Genetics
|November 19, 2011
PubMed

Insights

X-linked dilated cardiomyopathy in a male patient was linked to a DMD gene mutation. Genetic normalization in muscle tissue may have prevented skeletal muscle symptoms.

Area of Science:

  • Genetics
  • Cardiology
  • Neuromuscular Disorders

Background:

  • X-linked dilated cardiomyopathy is a cardiac dystrophinopathy primarily caused by DMD mutations.
  • DMD mutations can lead to specific transcriptional effects in cardiac tissue.

Observation:

  • A 26-year-old male presented with severe dilated cardiomyopathy and elevated creatine kinase, but no skeletal muscle weakness.
  • Muscle biopsy revealed mild dystrophic changes and few dystrophin-negative fibers.
  • Molecular analysis identified a nonsense DMD mutation (p.Arg2098X) exhibiting somatic mosaicism.

Findings:

  • The patient had a DMD mutation (p.Arg2098X) in somatic mosaicism.
  • Allele ratios in blood and muscle suggested genetic normalization, a process where mutant muscle cells are selected against.
  • This is the second reported case of DMD somatic mosaicism with evidence of genetic normalization in muscle.

Implications:

  • Genetic normalization may mitigate skeletal muscle symptoms in patients with DMD somatic mosaicism.
  • Somatic DMD mutations should be considered in the differential diagnosis of idiopathic dilated cardiomyopathy.
  • Further research into genetic normalization mechanisms could inform therapeutic strategies for dystrophinopathies.

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