{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T00:03:08Z","timestamp":1784160188927,"version":"3.55.0"},"reference-count":29,"publisher":"Georg Thieme Verlag KG","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"crossref","award":["69\u2013143"],"award-info":[{"award-number":["69\u2013143"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"crossref","award":["69\u2013145"],"award-info":[{"award-number":["69\u2013145"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Faculty of Dentistry","award":["DRF69_015"],"award-info":[{"award-number":["DRF69_015"]}]},{"name":"Thailand Science Research and Innovation Fund Chulalongkorn University","award":["HEA_FF_69_036_3200_003"],"award-info":[{"award-number":["HEA_FF_69_036_3200_003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Dent"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>To systematically investigate the comprehensive spectrum of dental features across a well-characterized cohort of individuals harboring pathogenic CHD7 variants, and to explore the spatial expression pattern of CHD7 in craniofacial tissues using an in situ hybridization model to support the biological relevance of the observed phenotypes.<\/jats:p>\n                  <jats:p>We performed a multi-case analysis (n\u2009=\u20099 pediatric patients; 7\u2009M, 2\u2009F; 1\u201318 years) with confirmed pathogenic\/likely pathogenic CHD7 variants recruited. Genetic analysis utilized whole genome or exome sequencing. In situ hybridization in embryonic mouse models mapped CHD7 expression in craniofacial and dental primordia.<\/jats:p>\n                  <jats:p>All patients presented with systemic CHD7-related features. Dental anomalies were frequent and diverse: cleft lip\/palate (n\u2009=\u20092), tooth agenesis (n\u2009=\u20092), microdontia (n\u2009=\u20091), and malocclusion (n\u2009=\u20096). Notably, novel findings included the identification of odontoma or unexplained radiopaque lesions in two distinct cases. Genetic analysis identified seven novel CHD7 variants (two de novo). Murine in situ hybridization confirmed CHD7 expression in mandibular and dental primordia, supporting its role in odontogenesis.<\/jats:p>\n                  <jats:p>We suggest that CHD7-related disorders may be associated with a broader spectrum of dental anomalies, including potentially underrecognized features. Dental assessments, including oral and radiographic examinations, may serve as adjunctive indicators and support further clinical and genetic investigation.<\/jats:p>","DOI":"10.1055\/s-0046-1824591","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T23:04:55Z","timestamp":1784156695000},"source":"Crossref","is-referenced-by-count":0,"title":["Novel CHD7 Variants Associated with an Expanded Orofacial and Dental Phenotype"],"prefix":"10.1055","author":[{"given":"Wuttichart","family":"Kamolvisit","sequence":"first","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-9801","authenticated-orcid":false,"given":"Thantrira","family":"Porntaveetus","sequence":"first","affiliation":[{"name":"Center of Excellence in Precision Medicine and Digital Health, Chulalongkorn University Implant and Esthetic Center, Center for Artificial Intelligence and Innovation (CAII), Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanit","family":"Arunratanothai","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanakorn","family":"Theerapanon","sequence":"additional","affiliation":[{"name":"Center of Excellence in Precision Medicine and Digital Health, Chulalongkorn University Implant and Esthetic Center, Center for Artificial Intelligence and Innovation (CAII), Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsushige","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Ohazama","sequence":"additional","affiliation":[{"name":"Center of Excellence in Precision Medicine and Digital Health, Chulalongkorn University Implant and Esthetic Center, Center for Artificial Intelligence and Innovation (CAII), Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"},{"name":"Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunisa","family":"Rochanavibhata","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risa","family":"Chaisuparat","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanatjit","family":"Cheawsamoot","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aayalida","family":"Buasong","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rungroj","family":"Thangpong","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9318-3974","authenticated-orcid":false,"given":"Phawin","family":"Kor-anantakul","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/gim.2017.197","article-title":"Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants","volume":"20","author":"C Xu","year":"2018","journal-title":"Genet 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