{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:27:15Z","timestamp":1777487235615,"version":"3.51.4"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T00:00:00Z","timestamp":1713312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T00:00:00Z","timestamp":1713312000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National Research Centre Egypt"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Oral Invest"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Objective<\/jats:title>\n            <jats:p>Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in <jats:italic>DSPP<\/jats:italic> gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Materials and methods<\/jats:title>\n            <jats:p>The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>WES revealed two new nonsense variants in <jats:italic>DSPP<\/jats:italic> gene, c.288T\u2009&gt;\u2009A (p.Tyr96Ter) and c.255G\u2009&gt;\u2009A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be <jats:italic>de novo<\/jats:italic> in the patient of Family 2.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions and clinical relevance<\/jats:title>\n            <jats:p>Our study extends the number of <jats:italic>DSPP<\/jats:italic> pathogenic variants and strengthens the fact that <jats:italic>DSPP<\/jats:italic> is the most common DI causative gene irrespective of patients\u2019 ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited <jats:italic>DSPP<\/jats:italic> variants taking into consideration the variable religion, culture and laws in our society.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00784-024-05636-z","type":"journal-article","created":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T04:02:20Z","timestamp":1713326540000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling"],"prefix":"10.1007","volume":"28","author":[{"given":"Nehal F.","family":"Hassib","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mennat","family":"Mehrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa I.","family":"Mostafa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,17]]},"reference":[{"issue":"8","key":"5636_CR1","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1016\/j.biocel.2004.01.006","volume":"36","author":"VE - Arana-Chavez","year":"2004","unstructured":"Arana-Chavez VE, Massa LF (2004) Odontoblasts: the cells forming and maintaining dentine. 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The study was revised and approved by the Oro-dental Genetics Reviewer Scientific Board of the Department and the Medical Research Ethics of NRC (Approval#:\u00a020068), Cairo, Egypt. The patients\/Guardians signed a written informed consent to provide the blood sample and to accept the dissemination of the data for publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to Participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"254"}}