ArticleAmerican journal of human genetics2011
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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57 citing papers in PubMed, 144 citations in OpenAlex.
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- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- TheBiomedicines · 2024Article
- Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.Biochemical and biophysical research communications · 2023Article
- Article
- Cardiovascular Involvement in PediatricJournal of cardiovascular development and disease · 2022Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- Filamin C in cardiomyopathy: from physiological roles to DNA variants.Heart failure reviews · 2022Review
- Genetic Insights into Primary Restrictive Cardiomyopathy.Journal of clinical medicine · 2022Review
- Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.Frontiers in neurology · 2022Article
- A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.CNS neuroscience & therapeutics · 2021Article
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Journal of medical genetics · 2021Article
- FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.Neurology. Genetics · 2021Article
- The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".Journal of muscle research and cell motility · 2021Article
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.Equine veterinary journal · 2021Article
- Protein disulfide isomerase ERp57 protects early muscle denervation in experimental ALS.Acta neuropathologica communications · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature.Academic forensic pathology · 2020Article
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24 authors at 14 institutions in 7 countries.
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Abstract
Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy. Sequencing of FLNC cDNA identified a c.752T>C (p.Met251Thr) mutation in the N-terminal actin-binding domain (ABD); this mutation segregated with the disease and was absent in 200 controls. We identified an Italian family with the same phenotype and found a c.577G>A (p.Ala193Thr) filamin C ABD mutation that segregated with the disease. Filamin C ABD mutations have not been described, although filamin A and filamin B ABD mutations cause multiple musculoskeletal disorders. The distal myopathy phenotype and muscle pathology in the two families differ from myofibrillar myopathies caused by filamin C rod and dimerization domain mutations because of the distinct involvement of hand muscles and lack of pathological protein aggregation. Thus, like the position of FLNA and B mutations, the position of the FLNC mutation determines disease phenotype. The two filamin C ABD mutations increase actin-binding affinity in a manner similar to filamin A and filamin B ABD mutations. Cell-culture expression of the c.752T>C (p.Met251)Thr mutant filamin C ABD demonstrated reduced nuclear localization as did mutant filamin A and filamin B ABDs. Expression of both filamin C ABD mutants as full-length proteins induced increased aggregation of filamin. We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.
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