Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839.

Abstract

We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / pathology
  • Child
  • Contracture / genetics*
  • Contracture / pathology
  • Family
  • Female
  • Genetic Linkage
  • Germany
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • LIM Domain Proteins
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Muscle Proteins / genetics*
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Sex Factors
  • Young Adult

Substances

  • FHL1 protein, human
  • Intracellular Signaling Peptides and Proteins
  • LIM Domain Proteins
  • Muscle Proteins