{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:37:31Z","timestamp":1787027851967,"version":"build-2736575974"},"reference-count":18,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T00:00:00Z","timestamp":1646352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF-2018R1A5A2024418 and NRF-2020R1A2C2100543"],"award-info":[{"award-number":["NRF-2018R1A5A2024418 and NRF-2020R1A2C2100543"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009543","name":"Pontificia Universidad Javeriana","doi-asserted-by":"publisher","award":["grant No. 3922"],"award-info":[{"award-number":["grant No. 3922"]}],"id":[{"id":"10.13039\/501100009543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and\/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C&gt;A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.<\/jats:p>","DOI":"10.3390\/children9030362","type":"journal-article","created":{"date-parts":[[2022,3,6]],"date-time":"2022-03-06T20:35:50Z","timestamp":1646598950000},"page":"362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes"],"prefix":"10.3390","volume":"9","author":[{"given":"Camila","family":"Alvarez","sequence":"first","affiliation":[{"name":"Pediatric Dentist Residency Program, Faculty of Dentistry, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Andrea","family":"Arag\u00f3n","sequence":"additional","affiliation":[{"name":"Pediatric Dentist Residency Program, Faculty of Dentistry, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yejin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, School of Dentistry & DRI, Seoul National University, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2112-2563","authenticated-orcid":false,"given":"Sandra","family":"Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Center of Dental Research, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Pediatric Dentist Residency Program, Faculty of Dentistry, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-9138","authenticated-orcid":false,"given":"Dabeiba Adriana","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Center of Dental Research, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1803-9141","authenticated-orcid":false,"given":"Liliana","family":"Otero","sequence":"additional","affiliation":[{"name":"Center of Dental Research, Pontifical Xavierian University, Bogota 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-2197","authenticated-orcid":false,"given":"Jung-Wook","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, School of Dentistry & DRI, Seoul National University, Seoul 03080, Korea"},{"name":"Department of Molecular Genetics, School of Dentistry & DRI, Seoul National University, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,4]]},"reference":[{"key":"ref_1","unstructured":"Stewart, R.E., and Prescott, G.H. 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