{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:50:57Z","timestamp":1790373057271,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T00:00:00Z","timestamp":1493769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004722","name":"Stiftelsen Lars Hiertas Minne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004722","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005753","name":"Kungliga Fysiografiska S\u00e4llskapet i Lund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005753","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007051","name":"Uppsala Universitet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003748","name":"Svenska S\u00e4llskapet f\u00f6r Medicinsk Forskning","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003748","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>Mutations in genes involved in the cilium\u2010centrosome complex are called ciliopathies. Meckel\u2010Gruber syndrome (<jats:styled-content style=\"fixed-case\">MKS<\/jats:styled-content>) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with <jats:styled-content style=\"fixed-case\">MKS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MKS<\/jats:styled-content>\u2010like phenotypes, but there are still genes remaining to be discovered. We have used whole\u2010exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with 2 affected fetuses. <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> studies and histopathological analysis was performed for further delineation. <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> lead to identification of a homozygous nonsense mutation c.<jats:styled-content style=\"fixed-case\">256C<\/jats:styled-content>&gt;T (p.Arg86*) in <jats:italic><jats:styled-content style=\"fixed-case\">CEP55<\/jats:styled-content><\/jats:italic> (centrosomal protein of 55 <jats:styled-content style=\"fixed-case\">kDa<\/jats:styled-content>) in the affected fetus. The variant has previously been identified in carriers in low frequencies, and segregated in the family. <jats:styled-content style=\"fixed-case\">CEP55<\/jats:styled-content> is an important centrosomal protein required for the mid\u2010body formation at cytokinesis. Our results expand the list of centrosomal proteins implicated in human ciliopathies and provide evidence for an essential role of <jats:styled-content style=\"fixed-case\">CEP55<\/jats:styled-content> during embryogenesis and development of disease.<\/jats:p>","DOI":"10.1111\/cge.13012","type":"journal-article","created":{"date-parts":[[2017,3,15]],"date-time":"2017-03-15T01:42:43Z","timestamp":1489542163000},"page":"510-516","source":"Crossref","is-referenced-by-count":48,"title":["A nonsense mutation in <i><scp>CEP55<\/scp><\/i> defines a new locus for a Meckel\u2010like syndrome, an autosomal recessive lethal fetal ciliopathy"],"prefix":"10.1111","volume":"92","author":[{"given":"M.\u2010L.","family":"Bondeson","sequence":"first","affiliation":[{"name":"Department of Immunology, Genetics and Pathology Uppsala University, Science for Life Laboratory  Uppsala 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