ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 44 citations in OpenAlex.
- RNA-sequencing based gene variants observed in patients with hyperlipidemia and premature coronary heart disease: A preliminary study.Biochemistry and biophysics reports · 2026Article
- RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics.Human mutation · 2026Article
- A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.Cureus · 2025Article
- Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.Genome medicine · 2024Article
- Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.Biology of sex differences · 2024Article
- Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index.American journal of human genetics · 2023Article
- Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.European journal of human genetics : EJHG · 2023Article
- Improved detection of aberrant splicing using the Intron Jaccard Index.medRxiv : the preprint server for health sciences · 2023Article
- Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.Acta neuropathologica communications · 2023Article
- Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.Frontiers in cell and developmental biology · 2023Article
- Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.Internal medicine (Tokyo, Japan) · 2022Article
- OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.Frontiers in cell and developmental biology · 2022Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- What can go wrong in the non-coding genome and how to interpret whole genome sequencing data.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2021Article
- Feasibility of predicting allele specific expression from DNA sequencing using machine learning.Scientific reports · 2021Article
- Detection of aberrant gene expression events in RNA sequencing data.Nature protocols · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.Frontiers in neurology · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- A Deep Intronic Variant Activates a Pseudoexon in theMolecular syndromology · 2020Article
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20-40%. The low rate is partly because ES misses deep-intronic or synonymous variants leading to aberrant splicing. In this study, we aimed to apply RNA sequencing (RNA-seq) to efficiently detect the aberrant splicings and their related variants.
methodsAberrant splicing in biopsied muscles from six nemaline myopathy (NM) cases unresolved by ES were analyzed with RNA-seq. Variants related to detected aberrant splicing events were analyzed with Sanger sequencing. Detected variants were screened in NM patients unresolved by ES.
resultsWe identified a novel deep-intronic NEB pathogenic variant, c.1569+339A>G in one case, and another novel synonymous NEB pathogenic variant, c.24684G>C (p.Ser8228Ser) in three cases. The c.24684G>C variant was observed to be the most frequent among all NEB pathogenic variants in normal Japanese populations with a frequency of 1 in 178 (20 alleles in 3552 individuals), but was previously unrecognized. Expanded screening of the variant identified it in a further four previously unsolved nemaline myopathy cases.
conclusionThese results indicated that RNA-seq may be able to solve a large proportion of previously undiagnosed muscle diseases.
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