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In addition to X\u2010linked inheritance, ankyloglossia, present in the majority of CPX patients, is an important diagnostic marker, but it is frequently missed or unreported, as it is a \u201cminor\u201d feature. Other described anomalies include cleft lip, micro and\/or hypodontia, and features of CHARGE syndrome. We conducted whole exome sequencing (WES) on 22 individuals from 17 \u201ca priori\u201d non\u2010syndromic cleft lip and\/or cleft palate (CL\/P) families. We filtered the data for heterozygous pathogenic variants within a set of predefined candidate genes. Two canonical splice\u2010site mutations were found in <jats:italic>TBX22.<\/jats:italic> Detailed re\u2010phenotyping of the two probands and their families unravelled orofacial features previously not associated with the CPX phenotypic spectrum: choanal atresia, Pierre\u2010Robin sequence, and overgrowths on the posterior edge of the hard palate, on each side of the palatal midline. This study emphasizes the importance of WES analysis in familial CLP cases, combined with deep (reverse) phenotyping in \u201ca priori\u201d non\u2010syndromic clefts.<\/jats:p>","DOI":"10.1002\/ajmg.a.40630","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T16:28:38Z","timestamp":1542817718000},"page":"2661-2667","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Unmasking familial CPX by WES and identification of novel clinical signs"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5266-7710","authenticated-orcid":false,"given":"B\u00e9n\u00e9dicte","family":"Demeer","sequence":"first","affiliation":[{"name":"Human Molecular Genetics de Duve Institute, University of Louvain  Brussels Belgium"},{"name":"Center for Human Genetics, CLAD nord de France CHU Amiens\u2010Picardie  Amiens France"},{"name":"EA CHIMERE Universit\u00e9 Picardie Jules Verne  Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics de Duve Institute, University of Louvain  Brussels Belgium"},{"name":"Center for Human Genetics, Cliniques universitaires Saint\u2010Luc University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raphael","family":"Helaers","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics de Duve Institute, University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Devauchelle","sequence":"additional","affiliation":[{"name":"EA CHIMERE Universit\u00e9 Picardie Jules Verne  Amiens France"},{"name":"Department of Maxillofacial Surgery and Stomatology, centre de comp\u00e9tence fentes et malformations faciales MAFACE CHU Amiens\u2010Picardie  Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"Fran\u00e7ois","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cliniques universitaires Saint\u2010Luc University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"Bayet","sequence":"additional","affiliation":[{"name":"Centre Labiopalatin, Division of Plastic Surgery, Cliniques universitaires Saint\u2010Luc University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics de Duve Institute, University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/521033"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-311"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105110"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng730"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.22.2793"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2009.53"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200501000-00005"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.08.006"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1606-x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313786"},{"key":"e_1_2_10_13_1","volume-title":"Inheritance of harelip and cleft palate; contribution to the elucidation of the etiology of the congenital clefts of the face","author":"Fogh\u2010Andersen P.","year":"1942"},{"issue":"4","key":"e_1_2_10_14_1","first-page":"358","article-title":"Thoughts on the etiology of clefts of the palate and lip","volume":"5","author":"Fraser F. 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