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To date, 126 genes have been implicated in <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content>. Therefore, the heterogenous genetic background of <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content> requires comprehensive genetic investigative approaches.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> from 28 Hungarian <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content> patients was subjected to targeted high\u2010throughput sequencing of the coding regions of three Mendelian <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content> genes: <jats:italic><jats:styled-content style=\"fixed-case\">FUS<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> SETX<\/jats:styled-content><\/jats:italic>, and <jats:italic>C9<jats:styled-content style=\"fixed-case\">ORF<\/jats:styled-content>72<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous missense mutation (c.791A&gt;G, p.N264S) of the <jats:italic><jats:styled-content style=\"fixed-case\">SETX<\/jats:styled-content><\/jats:italic> gene was identified in a female patient presenting an atypical <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content> phenotype, including adult onset and lower motor neuron impairment. No further mutations were detected in the other Mendelian <jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content> genes investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study contributes to the understanding of the genetic and phenotypic diversity of motor neuron diseases (MNDs). Our results also suggest that the elucidation of the genetic background of MNDs requires a complex approach, including the screening of both Mendelian and non\u2010Mendelian genes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.669","type":"journal-article","created":{"date-parts":[[2017,3,16]],"date-time":"2017-03-16T04:12:59Z","timestamp":1489637579000},"source":"Crossref","is-referenced-by-count":25,"title":["High\u2010throughput sequencing revealed a novel <scp>SETX<\/scp> mutation in a Hungarian patient with amyotrophic lateral sclerosis"],"prefix":"10.1002","volume":"7","author":[{"given":"Korn\u00e9lia","family":"Tripolszki","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Szeged  Szeged Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00f3ra","family":"T\u00f6r\u00f6k","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Szeged  Szeged 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