ArticleJournal of molecular neuroscience : MN2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Article in Journal of molecular neuroscience : MN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 18 citations in OpenAlex.
- Case report: Homozygous variants ofFrontiers in genetics · 2023Article
- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.International journal of molecular sciences · 2022Article
- Identification of the hub and prognostic genes in liver hepatocellular carcinomaFrontiers in molecular biosciences · 2022Article
- Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.Acta neurologica Belgica · 2020Review
- Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.Acta neuropathologica communications · 2020Article
- ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.Scientific reports · 2019Article
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Authors and funding
23 authors at 10 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Nemaline myopathy represents a group of clinically and genetically heterogeneous neuromuscular disorders. Different clinical-genetic entities have been characterized in the last few years, with implications for diagnostics and genetic counseling. Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive. We selected 10 Italian patients with clinical and biopsy features suggestive for nemaline myopathy and negative for ACTA1, TPM2 and TPM3 mutations. We applied a targeted next-generation sequencing strategy designed to analyse NEB coding regions, the relative full introns and the promoter. We also evaluated copy number variations (by CGH array) and transcriptional changes by RNA Sanger sequencing, whenever possible. This combined strategy revealed 11 likely pathogenic variants in 8 of 10 patients. The molecular diagnosis was fully achieved in 3 of 8 patients, while only one heterozygous mutation was observed in 5 subjects. This approach revealed to be a fast and cost-effective way to analyse the large NEB gene in a small group of patients and might be promising for the detection of pathological variants of other genes featuring large coding regions and lacking mutational hotspots.
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