Targeted Next Generation Sequencing in patients with Myotonia Congenita
| Autor: | Sara Nuovo, Annalisa Botta, Valentina Ferradini, Giuseppe Novelli, Marco Cassone, Maria Rosaria D'Apice, Ilaria Bagni, Federica Sangiuolo |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Thomsen disease Myotonia Congenita Clinical Biochemistry Polymorphism Single Nucleotide Biochemistry DNA sequencing 03 medical and health sciences Exon 0302 clinical medicine Gene Frequency Chloride Channels Becker disease CLCN1 NGS Coding region Medicine Humans Polymorphism Gene Genetics biology business.industry Myotonia congenita Exons Mutation High-Throughput Nucleotide Sequencing Biochemistry (medical) General Medicine Ion semiconductor sequencing Single Nucleotide medicine.disease Molecular biology 030104 developmental biology Settore MED/03 - Genetica Medica biology.protein Primer (molecular biology) business 030217 neurology & neurosurgery |
| Popis: | INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC patients. Samples already Sanger-sequenced were successively evaluated by Next Generation Sequencing (NGS), on Ion Torrent PGM. Moreover, additional 15 patients were sequenced directly by NGS. RESULTS: NGS allowed us to identify all CLCN1 mutations except those located within exon 3, demonstrating a 96% of sensitivity. Due to primer design, one SNP (exactly rs7794560) also failed to be detected. Our results enlarge the spectrum of CLCN1 mutations and showed a novel approach for molecular analysis of MC. |
| Databáze: | OpenAIRE |
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