A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients
| Autor: | Belén Alonso, Eliecer Coto, Angela Gregoraci Fernández, Juan Gómez, Sara Iglesias |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Mutation Missense CADASIL Biology Bioinformatics DNA sequencing Leukoencephalopathy Cellular and Molecular Neuroscience symbols.namesake medicine Humans Missense mutation Genetic Testing Receptor Notch3 Exome sequencing Aged Oligonucleotide Array Sequence Analysis Sanger sequencing Genetics Receptors Notch Serine Endopeptidases High-Throughput Nucleotide Sequencing High-Temperature Requirement A Serine Peptidase 1 Sequence Analysis DNA General Medicine Ion semiconductor sequencing Middle Aged medicine.disease eye diseases Semiconductors symbols Female Software Personal genomics |
| Zdroj: | Journal of Molecular Neuroscience. 56:613-616 |
| ISSN: | 1559-1166 0895-8696 |
| DOI: | 10.1007/s12031-015-0560-3 |
| Popis: | Our purpose was to develop a next-generation sequencing procedure to search for NOTCH3 and HTRA1 mutations in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) features. A total of 70 patients were sequenced with semiconductor chips in an Ion Torrent Personal Genome Machine. The putative mutations were confirmed through Sanger sequencing of the corresponding patient. Six patients had a typical cysteine-involving NOTCH3 mutation. A new non-reported NOTCH3 variant (p.Pro2178Ser) was found in two patients. One patient was heterozygous for a non-reported HTRA1 variant, likely non-pathogenic (p.Ser139Ala). We found a typical NOTCH3 mutation in 9 % of the patients. None of the patients had HTRA1 variants with likely pathogenic effect. The next-generation sequencing (NGS) procedure here described would facilitate the rapid and cost-effective screening of large cohorts of CADASIL patients. |
| Databáze: | OpenAIRE |
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