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Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR\/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa050","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T16:10:58Z","timestamp":1584461458000},"page":"1900-1921","source":"Crossref","is-referenced-by-count":33,"title":["Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome"],"prefix":"10.1093","volume":"29","author":[{"given":"Reham","family":"Alharatani","sequence":"first","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK"},{"name":"Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Beleza-Meireles","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK"},{"name":"Department of Clinical Genetics, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhen","family":"Ji","sequence":"additional","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, 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Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Healy","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumayyah","family":"Hannan","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsuko","family":"Neo","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK"},{"name":"Tokyo Medical and Dental University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Cash","sequence":"additional","affiliation":[{"name":"South Thames Cleft Service, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust, London SE1 7EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2265-6727","authenticated-orcid":false,"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H","family":"Zackai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human 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8EG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane A","family":"Hurst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping Yee Billie","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine, Alberta Children\u2019s Hospital Research Institute, University of Calgary, AB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Therese","family":"Hosey","sequence":"additional","affiliation":[{"name":"Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral 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