{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T15:37:02Z","timestamp":1782142622714,"version":"3.54.5"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["68\u2010032, 68\u2010059, 68\u2010082"],"award-info":[{"award-number":["68\u2010032, 68\u2010059, 68\u2010082"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the dentin sialophosphoprotein (<jats:italic>DSPP<\/jats:italic>) gene are known to cause hereditary dentin disorders, including dentinogenesis imperfecta (DGI), which is characterized by abnormal dentin development and structure. However, the full spectrum of clinical manifestations and the impact of specific variants remain to be fully elucidated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Oral and radiological examinations were conducted on eight patients from two families. Physical characterization of deciduous DGI teeth and matched controls was performed. Exome and Sanger sequencing were employed for variant detection.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients exhibited opalescent teeth with bulbous crowns and pulpal obliteration. A copper\u2010beaten skull appearance was detected in one proband, indicating craniosynostosis and necessitating immediate medical intervention. Ultrastructural analyses revealed a dark and red\u2010yellow tone in deciduous DGI teeth. DGI dentin exhibited decreased mineral density, hardness, and elastic modulus, along with disruption of dentinal tubules, the dentinoenamel junction, and mineral contents. Two novel heterozygous frameshift variants in <jats:italic>DSPP<\/jats:italic>, c.2317del and c.3555del, were identified in families A and B, respectively, both located in exon 5, expected to alter the repeating sequence pattern of the dentin phosphoprotein (DPP) protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study identifies two novel frameshift variants in the DPP region associated with compromised dentin properties, composition, and ultrastructure. These findings expand the genotype and phenotype spectra of <jats:italic>DSPP<\/jats:italic>\u2010DGI, highlighting the crucial role of dentists not only in addressing dental diseases but also in contributing to broader medical interventions.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.70030","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T05:15:36Z","timestamp":1755062136000},"page":"823-834","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unveiling Novel <scp><i>DSPP<\/i><\/scp> Variants and Dental Phenotypes in Dentinogenesis Imperfecta"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0079-4505","authenticated-orcid":false,"given":"Angkana","family":"Boonyakanog","sequence":"first","affiliation":[{"name":"Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, 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, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1702-7675","authenticated-orcid":false,"given":"Tanit","family":"Arunratanothai","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somchai","family":"Yodsanga","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nond","family":"Rojvachiranonda","sequence":"additional","affiliation":[{"name":"Department of Surgery, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Princess Sirindhorn Craniofacial Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshman","family":"Samaranayake","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, University of Hong Kong, Hong Kong and Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuttichart","family":"Kamolvisit","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, 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 Medical Genetics, King Chulalongkorn Memorial Hospital, 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":"additional","affiliation":[{"name":"Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"},{"name":"Geriatric Dentistry and Special Patients Care International Program, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1349-0079(09)80021-2"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-31"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-5712(96)00065-6"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdsr.2018.03.006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/948181"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)41916-8"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41368-018-0035-9"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2009.03.006"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00784\u2010018\u20102437\u20107"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38370"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14060"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz297"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13657"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2010.01033.x"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/03008200290000817"},{"key":"e_1_2_11_18_1","first-page":"489","article-title":"Preformed Metal Crowns for Primary and Permanent Molar Teeth: Review of the Literature","volume":"24","author":"Randall R. C.","year":"2002","journal-title":"Pediatric Dentistry"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.5005\/jp-journals-10005-1681"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008200903329789"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20783"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056911"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12801"}],"container-title":["Journal of Oral Pathology &amp; Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jop.70030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T02:46:29Z","timestamp":1760496389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jop.70030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,12]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/jop.70030"],"URL":"https:\/\/doi.org\/10.1111\/jop.70030","archive":["Portico"],"relation":{},"ISSN":["0904-2512","1600-0714"],"issn-type":[{"value":"0904-2512","type":"print"},{"value":"1600-0714","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,12]]},"assertion":[{"value":"2024-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}