{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:24Z","timestamp":1791353544182,"version":"4.3.1"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T00:00:00Z","timestamp":1461888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006587","name":"GIS-Institut des Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["63\/8\/2010\u2010BMS"],"award-info":[{"award-number":["63\/8\/2010\u2010BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>The 13 subtypes of oral\u2013facial\u2013digital syndrome (<jats:styled-content style=\"fixed-case\">OFDS<\/jats:styled-content>) belong to the heterogeneous group of ciliopathies. Disease\u2010causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified <jats:styled-content style=\"fixed-case\">OFDS<\/jats:styled-content> with skeletal dysplasia and brachymesophalangia was explored. Homozygosity mapping and exome sequencing led to the identification of a homozygous mutation in <jats:styled-content style=\"fixed-case\">IFT57<\/jats:styled-content>, which encodes a protein implicated in ciliary transport. The mutation caused splicing anomalies with reduced expression of the wild\u2010type transcript and protein. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects' fibroblasts compared with controls. Sanger sequencing of <jats:styled-content style=\"fixed-case\">IFT57<\/jats:styled-content> in 13 <jats:styled-content style=\"fixed-case\">OFDS<\/jats:styled-content> subjects and 12 subjects with Ellis\u2013Van Creveld syndrome was negative. This report identifies the implication of <jats:styled-content style=\"fixed-case\">IFT57<\/jats:styled-content> in human pathology and highlights the first description of a ciliary transport defect in <jats:styled-content style=\"fixed-case\">OFDS<\/jats:styled-content>, extending the genetic heterogeneity of this subgroup of ciliopathies.<\/jats:p>","DOI":"10.1111\/cge.12785","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:43:31Z","timestamp":1460310211000},"page":"509-517","source":"Crossref","is-referenced-by-count":26,"title":["Autosomal recessive <scp>IFT57<\/scp> hypomorphic mutation cause ciliary transport defect in unclassified oral\u2013facial\u2013digital syndrome with short stature and brachymesophalangia"],"prefix":"10.1111","volume":"90","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9271-3961","authenticated-orcid":false,"given":"J.","family":"Thevenon","sequence":"first","affiliation":[{"name":"FHU\u2010TRANSLAD 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