ArticleCurrent issues in molecular biology2021
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.
Article in Current issues in molecular biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.Human genome variation · 2024Article
- Genotyping single nucleotide polymorphisms in homologous regions using multiplex kb level amplicon capture sequencing.Molecular genetics and genomics : MGG · 2024Article
- Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.Human genome variation · 2024Article
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- Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.Human genome variation · 2023Article
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- Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.International journal of molecular sciences · 2022Article
- Molecular Modelling Hurdle in the Next-Generation Sequencing Era.International journal of molecular sciences · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Elaborate analyses of the status of gene mutations in neurofibromatosis type 1 (NF1) are still difficult nowadays due to the large gene sizes, broad mutation spectrum, and the various effects of mutations on mRNA splicing. These problems cannot be solved simply by sequencing the entire coding region using next-generation sequencing (NGS). We recently developed a new strategy, named combined long amplicon sequencing (CoLAS), which is a method for simultaneously analysing the whole genomic DNA region and, also, the full-length cDNA of the disease-causative gene with long-range PCR-based NGS. In this study, CoLAS was specifically arranged for NF1 genetic analysis, then applied to 20 patients (five previously reported and 15 newly recruited patients, including suspicious cases) for optimising the method and to verify its efficacy and benefits. Among new cases, CoLAS detected not only 10 mutations, including three unreported mutations and one mosaic mutation, but also various splicing abnormalities and allelic expression ratios quantitatively. In addition, heterozygous mapping by polymorphisms, including introns, showed copy number monitoring of the entire
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