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A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performed in 14 case-parent trios\/quattros with clinical exclusion of PCD prior to analysis. Moreover, all cases and parents underwent detailed clinical phenotyping including physical examination, echocardiography by a skilled paediatric cardiologist and abdominal ultrasound examinations not to miss mildly affected individuals. Subsequent survey of the exome data comprised filtering for monoallelic\n                    <jats:italic>de novo<\/jats:italic>\n                    , rare biallelic, and X-linked recessive variants. In two families, rare variants of uncertain significance (VUS) in\n                    <jats:italic>PKD1L1<\/jats:italic>\n                    and\n                    <jats:italic>ZIC3<\/jats:italic>\n                    were identified. Both genes have been associated with laterality defects. In two of the remaining families, biallelic variants in\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    and\n                    <jats:italic>DNAH17<\/jats:italic>\n                    , respectively, were prioritized. In another family, an ultra-rare\n                    <jats:italic>de novo<\/jats:italic>\n                    variant in\n                    <jats:italic>WDR47<\/jats:italic>\n                    was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in\n                    <jats:italic>WDR47<\/jats:italic>\n                    , but no further individuals with biallelic variants in\n                    <jats:italic>DNAH17<\/jats:italic>\n                    or\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    . Overall, ES of 14 case-parent trios\/quattros with cardiovascular laterality defects identified rare VUS in two families in known disease-associated genes\n                    <jats:italic>PKD1L1<\/jats:italic>\n                    and\n                    <jats:italic>ZIC3<\/jats:italic>\n                    and suggests\n                    <jats:italic>DNAH17<\/jats:italic>\n                    ,\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    , and\n                    <jats:italic>WDR47<\/jats:italic>\n                    as potential genes involved in laterality defects.\n                  <\/jats:p>","DOI":"10.1038\/s41431-022-01100-2","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T01:14:38Z","timestamp":1650935678000},"page":"946-954","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes"],"prefix":"10.1038","volume":"30","author":[{"given":"Katinka","family":"Breuer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7503-5801","authenticated-orcid":false,"given":"Korbinian M.","family":"Riedhammer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9211-9209","authenticated-orcid":false,"given":"Nicole","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birthe","family":"Schaidinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"Dombrowsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8455-3416","authenticated-orcid":false,"given":"Sven","family":"Dittrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Zeidler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike M. 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