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Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and <jats:italic>de novo<\/jats:italic> mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents) and a standard investigation and interpretation of the identified variants was performed according to the published guidelines. We identified a novel <jats:italic>de novo<\/jats:italic> mutation (c.2327C\u2009&gt;\u2009T, p.P776L) in <jats:italic>DYNC1H1<\/jats:italic> gene and confirmed that it was the causal variant. The phenotype of the affected twins included delayed motor milestones, <jats:italic>pes cavus<\/jats:italic>, lower limb weakness and atrophy and a waddling gait. Electromyographic (EMG) recordings revealed typical signs of chronic denervation. Our study demonstrates the power of WES to discover the <jats:italic>de novo<\/jats:italic> mutations associated with a neurological disease on the whole exome scale and guidelines to conduct WES studies and interpret of identified variants are a preferable option for the exploration of the pathogenesis of rare neurological disorders.<\/jats:p>","DOI":"10.1038\/srep20423","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T09:41:36Z","timestamp":1454665296000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Identification of a de novo DYNC1H1 mutation via WES according to published guidelines"],"prefix":"10.1038","volume":"6","author":[{"given":"Dongxue","family":"Ding","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhe","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoli","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,2,5]]},"reference":[{"key":"BFsrep20423_CR1","doi-asserted-by":"publisher","first-page":"9124","DOI":"10.1038\/srep09124","volume":"5","author":"KM Steinberg","year":"2015","unstructured":"Steinberg, K. 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