A rare mutation in MYH7 gene occurs with overlapping phenotype

Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7.

Abstract

Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific molecular pathobiological processes that cause these different phenotypes remains unexplained. We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype characterized by Laing Distal Myopathy like phenotype, left ventricular non compaction cardiomyopathy and Fiber Type Disproportion picture at muscle biopsy. We suggest that this overlapping presentation confirm the phenotypic variability of MYH7 myopathy and may be helpful to improve the genotype phenotype correlation.

Keywords: Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Base Sequence
  • Cardiac Myosins / genetics*
  • DNA / genetics
  • DNA Mutational Analysis
  • Distal Myopathies / genetics*
  • Distal Myopathies / pathology
  • Female
  • Genes, Dominant
  • Genetic Association Studies
  • Humans
  • Isolated Noncompaction of the Ventricular Myocardium / diagnostic imaging
  • Isolated Noncompaction of the Ventricular Myocardium / genetics*
  • Male
  • Mutant Proteins / genetics*
  • Mutation, Missense*
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Ultrasonography

Substances

  • MYH7 protein, human
  • Mutant Proteins
  • DNA
  • Cardiac Myosins
  • Myosin Heavy Chains

Supplementary concepts

  • Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1