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It is clinically characterized by oto\u2010sino\u2010pulmonary diseases and subfertility, and half of the patients have <jats:italic>situs inversus<\/jats:italic> (Kartagener syndrome). To identify the genetic cause in a Han\u2010Chinese pedigree, whole\u2010exome sequencing was conducted in the 37\u2010year\u2010old proband, and then, Sanger sequencing was performed on available family members. Minigene splicing assay was applied to verify the impact of the splice\u2010site variant. Compound heterozygous variants including a splice\u2010site variant (c.1974\u20101G&gt;C, rs1359107415) and a missense variant (c.7787G&gt;A, p.(Arg2596Gln), rs780492669), in the dynein axonemal heavy chain 11\u00a0gene (<jats:italic>DNAH11<\/jats:italic>) were identified and confirmed as the disease\u2010associated variants of this lineage. The minigene expression <jats:italic>in vitro<\/jats:italic> revealed that the c.1974\u20101G&gt;C variant could cause skipping over exon 12, predicted to result in a truncated protein. This discovery may enlarge the <jats:italic>DNAH11<\/jats:italic> variant spectrum of PCD, promote accurate genetic counselling and contribute to PCD diagnosis.<\/jats:p>","DOI":"10.1111\/jcmm.16866","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T06:59:37Z","timestamp":1629269977000},"page":"9028-9037","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification of compound heterozygous <i>DNAH11<\/i> variants in a Han\u2010Chinese family with primary ciliary dyskinesia"],"prefix":"10.1111","volume":"25","author":[{"given":"Ying","family":"Xiong","sequence":"first","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":"Center for Experimental Medicine The Third Xiangya 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