{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T16:43:00Z","timestamp":1774975380390,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T00:00:00Z","timestamp":1522972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002924","name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"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\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Oral\u2010facial\u2010digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co\u2010occurrence of hamartomas and\/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and\/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole\u2010exome sequencing and SNP array identified compound heterozygous variants in the <jats:italic>INTU<\/jats:italic> gene, which encodes a protein involved in the positioning of the ciliary basal body. INTU is a subunit of the CPLANE multiprotein complex essential for the assembly of IFT\u2010A particles and intraflagellar transport. This report of a second patient with <jats:italic>INTU<\/jats:italic>\u2010related OFD syndrome and the further delineation of its neuroimaging and skeletal phenotype now allow <jats:italic>INTU<\/jats:italic>\u2010related OFD syndromes to be classified within the OFD syndrome type VI group. Patients display a phenotype similar to that of mice with a hypomorphic mutation of <jats:italic>Intu<\/jats:italic>, but with the addition of a heart defect.<\/jats:p>","DOI":"10.1111\/cge.13238","type":"journal-article","created":{"date-parts":[[2018,2,16]],"date-time":"2018-02-16T10:06:40Z","timestamp":1518775600000},"page":"1205-1209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>INTU<\/i>\u2010related oral\u2010facial\u2010digital syndrome type VI: A confirmatory report"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"A.\u2010L.","family":"Bruel","sequence":"first","affiliation":[{"name":"UMR 1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne\u2010 et Franche\u2010Comt\u00e9  Dijon France"},{"name":"FHU TRANSLAD Centre Hospitalier Universitaire de Bourgogne et Franche Comt\u00e9  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-816X","authenticated-orcid":false,"given":"J.","family":"Levy","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP\u2010Robert Debr\u00e9 University Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Elenga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Andr\u00e9e Ros\u00e9mon Regional Hospital  Cayenne French Guiana France"},{"name":"Antilles\u2010Guyane University  Cayenne French Guiana France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Defo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Andr\u00e9e Ros\u00e9mon Regional Hospital  Cayenne French Guiana 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Universit\u00e9 de Bourgogne\u2010 et Franche\u2010Comt\u00e9  Dijon France"},{"name":"FHU TRANSLAD Centre Hospitalier Universitaire de Bourgogne et Franche Comt\u00e9  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence Labellis\u00e9 Maladies rares Anomalies du D\u00e9veloppement et syndromes malformatifs de l'est H\u00f4pital d'Enfants, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"UMR 1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne\u2010 et Franche\u2010Comt\u00e9  Dijon France"},{"name":"FHU TRANSLAD Centre Hospitalier Universitaire de Bourgogne et Franche Comt\u00e9  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence Labellis\u00e9 Maladies rares Anomalies du D\u00e9veloppement et syndromes malformatifs de l'est H\u00f4pital d'Enfants, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4819-0264","authenticated-orcid":false,"given":"A.","family":"Verloes","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP\u2010Robert Debr\u00e9 University Hospital  Paris France"},{"name":"Denis Diderot Medical School Sorbonne\u2010Paris\u2010Cit\u00e9 University and INSERM U1141  Paris 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