Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

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 2010;67(1):136-40

PMID: 20186852

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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.

Address: Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin, Germany.

DOI: 10.1002/ana.21839

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