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The cytoplasmic dynein heavy chain (<jats:italic><jats:styled-content style=\"fixed-case\">DYNC1H1<\/jats:styled-content><\/jats:italic>) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (<jats:italic><jats:styled-content style=\"fixed-case\">DCTN1<\/jats:styled-content><\/jats:italic>) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia. However, the involvement of other dynactin genes with inherited peripheral neuropathies (<jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content>) namely, hereditary sensory neuropathy, hereditary motor neuropathy and Charcot\u2013Marie\u2013Tooth disease is under reported. We screened eight genes; <jats:italic><jats:styled-content style=\"fixed-case\">DCTN1<\/jats:styled-content>\u20106<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ACTR1A<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ACTR1B<\/jats:styled-content><\/jats:italic> in 136 <jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content> patients using whole\u2010exome sequencing and high\u2010resolution melt (<jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content>) analysis. Eight non\u2010synonymous variants (including one novel variant) and three synonymous variants were identified. Four variants have been reported previously in other studies, however segregation analysis within family members excluded them from causing <jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content> in these families. No variants of disease significance were identified in this study suggesting the dynactin genes are unlikely to be a common cause of <jats:styled-content style=\"fixed-case\">IPNs<\/jats:styled-content>. However, with the ease of querying gene variants from exome data, these genes remain worthwhile candidates to assess unsolved <jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content> families for variants that may affect the function of the proteins.<\/jats:p>","DOI":"10.1111\/cge.12712","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T09:35:56Z","timestamp":1449740156000},"page":"127-133","source":"Crossref","is-referenced-by-count":9,"title":["Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies"],"prefix":"10.1111","volume":"90","author":[{"given":"S.","family":"Tey","sequence":"first","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ahmad\u2010Annuar","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.P.","family":"Drew","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute, and Sydney Medical School University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Shahrizaila","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.A.","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute, and Sydney Medical School University of Sydney  Sydney Australia"},{"name":"Molecular Medicine Laboratory Concord Hospital  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Kennerson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute, and Sydney Medical School University of Sydney  Sydney Australia"},{"name":"Molecular Medicine Laboratory Concord Hospital  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes5010013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100542"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2613"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1083129"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00696-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4338-07.2007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5244-10.2011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1776"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1777"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0414-0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.147.2.307"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.126.2.403"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.02.026"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4226-07.2007"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4231-07.2008"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1123"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20631"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134608.83927.B1"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.293"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25833"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22950"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-013-1160-7"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-012-0910-z"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.011"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.018"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_6_31_1","unstructured":"BraathenGJ H\u00f8yerHO BuskL SkjelbredCF RusselMB. 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