Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

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.

• Authors: Hans Knoblauch, Christian Geier, Stephanie Adams, Birgit Budde, André Rudolph, Ute Zacharias, Jeannette Schulz-Menger, Andreas Spuler, Rabah Ben Yaou, Peter Nürnberg, Thomas Voit, Gisele Bonne, Simone Spuler
• Journal: Annals of neurology (Ann Neurol) Vol. 67 Issue 1 Pg. 136-40 (Jan 2010) ISSN: 1531-8249 [Electronic] United States
• PMID: 20186852 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Adolescent
• Adult
• Cardiomyopathy, Hypertrophic (genetics, pathology)
• Child
• Contracture (genetics, 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