{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T23:41:26Z","timestamp":1772840486987,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,6]],"date-time":"2018-03-06T00:00:00Z","timestamp":1520294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dentinogenesis imperfecta (<jats:styled-content style=\"fixed-case\">DI<\/jats:styled-content>) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, <jats:styled-content style=\"fixed-case\">DI<\/jats:styled-content> sufferers have a discolored and weakened dentition with an increased risk of fracture.<\/jats:p><jats:p>The aims of this study were to assess genotype\u2010phenotype findings in three families with <jats:styled-content style=\"fixed-case\">DI<\/jats:styled-content>\u2013<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> with special reference to mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> gene and clinical, histological, and imaging manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Nine patients participated in the study (two from family A, four from family B, and three from family C). Buccal swab samples were collected from all participants and extracted for genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>. Clinical and radiographic examinations had been performed longitudinally, and the dental status was documented using photographic images. Four extracted and decalcified tooth samples were prepared for histological analysis to assess dysplastic manifestations in the dentin. Optical coherence tomography (<jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content>) was applied to study the health of enamel tissue from in\u00a0vivo images and the effect of the mutation on the function and structure of the <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> gene was analyzed using bioinformatics software programs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The direct <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequence analysis revealed three distinct mutations, one of which was a novel finding. The mutations caused dominant phenotypes presumably by interference with signal peptide processing and protein secretion. The clinical and radiographic disturbances in the permanent dentition indicated interfamilial variability in <jats:styled-content style=\"fixed-case\">DI<\/jats:styled-content>\u2013<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> manifestations, however, no significant intrafamilial variability was observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The different mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> gene were accompanied by distinct phenotypes. Enamel defects suggested deficit in preameloblast function during the early stages of amelogenesis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.375","type":"journal-article","created":{"date-parts":[[2018,3,7]],"date-time":"2018-03-07T06:24:46Z","timestamp":1520403886000},"page":"339-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Dentinogenesis imperfecta type <scp>II<\/scp>\u2010 genotype and phenotype analyses in three Danish families"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5210-4483","authenticated-orcid":false,"given":"Kawther","family":"Taleb","sequence":"first","affiliation":[{"name":"Department of Odontology, Pediatric Dentistry and Clinical Genetics Faculty of Health and Medical Sciences University of Copenhagen Denmark"},{"name":"Resource Centre for Rare Oral Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Lauridsen","sequence":"additional","affiliation":[{"name":"Resource Centre for Rare Oral Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jette","family":"Daugaard\u2010Jensen","sequence":"additional","affiliation":[{"name":"Resource Centre for Rare Oral Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pekka","family":"Nieminen","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases, Clinicum University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Kreiborg","sequence":"additional","affiliation":[{"name":"Department of Odontology, Pediatric Dentistry and Clinical Genetics Faculty of Health and Medical Sciences University of Copenhagen Denmark"},{"name":"Resource Centre for Rare Oral Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,3,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-23"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.18261\/ISSN2058-7538-2013-01-02","article-title":"Erosion og andet tandslid \u2013 ajourf\u00f8rt viden og forebyggelse","volume":"3","author":"Bardow A.","year":"2013","journal-title":"Aktuel Nordisk Odontologi"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-31"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0909-8836.1998.eos106510.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345690480061701"},{"key":"e_1_2_8_7_1","first-page":"70","article-title":"Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar","volume":"7","author":"Bloch\u2010Zupan A.","year":"2016","journal-title":"Frontiers in Physiology"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2015.03.010"},{"key":"e_1_2_8_9_1","first-page":"219","volume-title":"Dentin and enamel anomalies","author":"Finn S. 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