ArticleActa neuropathologica communications2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Article in Acta neuropathologica communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
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- Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.Muscles (Basel, Switzerland) · 2023Article
- Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example ofGenes · 2023Article
- Long-read sequencing improves diagnostic rate in neuromuscular disorders.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Bi-AllelicInternational journal of molecular sciences · 2022Article
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- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.Journal of neurology · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients.Orphanet journal of rare diseases · 2021Review
- Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.Acta neuropathologica · 2021Article
- Genotype-phenotype correlations in recessive titinopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Limb girdle muscular dystrophy due toActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
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- The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.Orphanet journal of rare diseases · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Mutations in the J domain of DNAJB6 cause dominant distal myopathy.Neuromuscular disorders : NMD · 2020Article
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.Frontiers in genetics · 2020Article
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9 authors.
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Abstract
Mutations in ~100 genes cause muscle diseases with complex and often unexplained genotype/phenotype correlations. Next-generation sequencing studies identify a greater-than-expected number of genetic variations in the human genome. This suggests that existing clinical monogenic testing systematically miss very relevant information.We have created a core panel of genes that cause all known forms of nonsyndromic muscle disorders (MotorPlex). It comprises 93 loci, among which are the largest and most complex human genes, such as TTN, RYR1, NEB and DMD. MotorPlex captures at least 99.2% of 2,544 exons with a very accurate and uniform coverage. This quality is highlighted by the discovery of 20-30% more variations in comparison with whole exome sequencing. The coverage homogeneity has also made feasible to apply a cost-effective pooled sequencing strategy while maintaining optimal sensitivity and specificity.We studied 177 unresolved cases of myopathies for which the best candidate genes were previously excluded. We have identified known pathogenic variants in 52 patients and potential causative ones in further 56 patients. We have also discovered 23 patients showing multiple true disease-associated variants suggesting complex inheritance. Moreover, we frequently detected other nonsynonymous variants of unknown significance in the largest muscle genes. Cost-effective combinatorial pools of DNA samples were similarly accurate (97-99%). MotorPlex is a very robust platform that overcomes for power, costs, speed, sensitivity and specificity the gene-by-gene strategy. The applicability of pooling makes this tool affordable for the screening of genetic variability of muscle genes also in a larger population. We consider that our strategy can have much broader applications.
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