{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:32:48Z","timestamp":1791325968306,"version":"4.3.1"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,11,18]],"date-time":"2013-11-18T00:00:00Z","timestamp":1384732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"British Columbia Clinical Genomics Network (BCCGN)"},{"name":"Swiss Foundation for Grants in Biology and Medicine"},{"name":"Swiss National Science Foundation (SFGBM\/SNSF)"},{"name":"Freie Akademische Gesellschaft (FAG) Basel"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well\u2010characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family\u2010based whole\u2010exome sequencing in order to identify causal variants for a recurrent pattern of an undescribed lethal fetal congenital anomaly syndrome. The clinical signs included intrauterine growth restriction (<jats:styled-content style=\"fixed-case\">IUGR<\/jats:styled-content>), severe microcephaly, renal cystic dysplasia\/agenesis and complex brain and genitourinary malformations. The phenotype was compatible with a ciliopathy, but not diagnostic of any known condition. We hypothesized biallelic disruption of a gene leading to a defect related to the primary cilium. We identified novel autosomal recessive truncating mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KIF14<\/jats:styled-content><\/jats:italic> that segregated with the phenotype. Mice with autosomal recessive mutations in the same gene have recently been shown to have a strikingly similar phenotype. Genotype\u2013phenotype correlations indicate that the function of <jats:styled-content style=\"fixed-case\">KIF14<\/jats:styled-content> in cell division and cytokinesis can be linked to a role in primary cilia, supported by previous cellular and model organism studies of proteins that interact with <jats:styled-content style=\"fixed-case\">KIF14<\/jats:styled-content>. We describe the first human phenotype, a novel lethal ciliary disorder, associated with biallelic inactivating mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KIF14<\/jats:styled-content><\/jats:italic>. <jats:italic><jats:styled-content style=\"fixed-case\">KIF14<\/jats:styled-content><\/jats:italic> may also be considered a candidate gene for allelic viable ciliary and\/or microcephaly phenotypes.<\/jats:p>","DOI":"10.1111\/cge.12301","type":"journal-article","created":{"date-parts":[[2013,10,15]],"date-time":"2013-10-15T16:42:31Z","timestamp":1381855351000},"page":"220-228","source":"Crossref","is-referenced-by-count":104,"title":["Exome sequencing identifies mutations in <i><scp>KIF14<\/scp><\/i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype"],"prefix":"10.1111","volume":"86","author":[{"given":"I.","family":"Filges","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, and Child and Family Research Institute  Vancouver Canada"},{"name":"Division of Medical Genetics, Department of Biomedicine University Hospital  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Nosova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics University of British Columbia  Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bruder","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Tercanli","sequence":"additional","affiliation":[{"name":"Centre for Fetal Medicine and Ultrasound  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Townsend","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, and Child and Family Research Institute  Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.T.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, and Child and Family Research Institute  Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"R\u00f6thlisberger","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Medical Genetics, Cantonal Hospital  Aarau Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Heinimann","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Biomedicine University Hospital  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.G.","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, 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