Key result
Whole-exome sequencing links novel LDB3 mutation p.Met160Ile to familial late-onset myofibrillar myopathy.
Why the study?
Inherited myopathies are diverse genetic muscle disorders, and this study was conducted to elucidate the genetic causes in a large family with late-onset myofibrillar myopathy.
The identification of a novel likely pathogenic LDB3 mutation (p.Met160Ile) expands the genetic spectrum of late-onset myofibrillar myopathy.
Objective: Inherited myopathies are a diverse group of genetic muscle disorders characterized by muscle weakness and dysfunction resulting from mutations in genes with a wide range of biological functions. This study was performed to elucidate genetic causes in a large family with late-onset myofibrillar myopathy.Methods: Whole-exome sequencing was first applied to the proband, and then subsequent filtering process and in silico analysis was performed to determine causative mutation.Results: This study identified an unreported likely pathogenic mutation, p.Met160Ile, in the LIM domain binding 3 (LDB3) gene. This missense mutation showed complete cosegregation with affected individuals and was located at an evolutionarily well-conserved site. Several in silico analyses, along with simulations of three-dimensional structural changes in the mutant protein, predicted its potential pathogenicity.Conclusion: These findings expand the current understanding of the genetic basis of inherited myopathy and underscore the importance of comprehensive genetic analysis in clinical practice.
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Tamanna et al. (2025) studied this question. A novel likely pathogenic mutation, p.Met160Ile, in the LDB3 gene was identified in a family with late-onset myofibrillar myopathy, showing complete cosegregation with affected individuals.
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