1. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
- Author
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Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM, and Dyment DA
- Subjects
- Adult, Base Sequence, Cardiomyopathies pathology, Exome genetics, Female, Heterozygote, Humans, Male, Pedigree, Sequence Analysis, DNA, Severity of Illness Index, Siblings, Adaptor Proteins, Signal Transducing genetics, Cardiomyopathies genetics, Genetic Predisposition to Disease genetics, LIM Domain Proteins genetics, Membrane Proteins genetics, Muscular Dystrophies, Limb-Girdle genetics, Mutation, Missense, Tongue abnormalities
- Abstract
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations that are predicted to be pathogenic in LIMS2. Biopsy of skeletal muscle demonstrated disrupted immunostaining of LIMS2. This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase (ILK)-LIMS-parvin complex associated with LGMD., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2015
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