{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:32:19Z","timestamp":1790044339107,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,4,27]],"date-time":"2018-04-27T00:00:00Z","timestamp":1524787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult\u2010onset disorders. Pathogenic variants in more than 100 ciliary protein\u2010encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT\u2010A) and anterograde transport (IFT\u2010B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G\u2009&gt;\u2009T in <jats:italic>IFT27<\/jats:italic>, which encodes a small GTPase component of the IFT\u2010B complex. We conclude that bilateral renal agenesis is a rare feature of this severe ciliopathy and this report highlights the phenotypic overlap of Pallister\u2013Hall syndrome and ciliopathies. The phenotype in patients with <jats:italic>IFT27<\/jats:italic> gene variants is wide ranging from Bardet\u2013Biedl syndrome to a lethal phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.38685","type":"journal-article","created":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T06:31:06Z","timestamp":1524897066000},"page":"1610-1613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Loss of function <i>IFT27<\/i> variants associated with an unclassified lethal fetal ciliopathy with renal agenesis"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1629-378X","authenticated-orcid":false,"given":"Chlo\u00e9","family":"Qu\u00e9lin","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Maladies Rares CLAD\u2010Ouest CHU H\u00f4pital Sud Rennes 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