Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

John R. Yates, Jane Bagshaw, Veronica M. A. Aksmanovic, Ellen Coomber, R McMahon, Joanne L. Whittaker, Patrick J. Morrison, John Kendrick-Jones, Juliet A. Ellis

Research output: Contribution to journalArticlepeer-review

55 Citations (SciVal)

Abstract

Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein.

Original languageEnglish
Pages (from-to)159-165
Number of pages7
JournalNeuromuscular Disorders
Volume9
Issue number3
Early online date23 Nov 1998
DOIs
Publication statusPublished - 01 May 1999

Keywords

  • Amino Acid Substitution
  • DNA
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Membrane Proteins
  • Muscular Dystrophies
  • Muscular Dystrophy, Emery-Dreifuss
  • Mutation, Missense
  • Nuclear Proteins
  • Pedigree
  • Phenotype
  • Proline
  • Threonine
  • Thymopoietins
  • X Chromosome
  • Emery-Dreifuss muscular dystrophy
  • X chromosome
  • Cardiac disease
  • Mutation detection
  • Emerin
  • Muscle disease

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