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KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.<\/jats:p>","DOI":"10.1042\/bsr20192510","type":"journal-article","created":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T10:41:10Z","timestamp":1591180870000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Identification of a frame shift mutation in the <i>CCDC151<\/i> gene in a Han-Chinese family with Kartagener syndrome"],"prefix":"10.1042","volume":"40","author":[{"given":"Sheng","family":"Deng","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Emergency, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Xiong","sequence":"additional","affiliation":[{"name":"Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junxi","family":"Liao","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-0669","authenticated-orcid":false,"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2020,6,16]]},"reference":[{"key":"2021111620160567200_B1","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1007\/s10815-016-0849-3","article-title":"Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations","volume":"34","author":"Xu","year":"2017","journal-title":"J. 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