{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T11:46:33Z","timestamp":1781264793754,"version":"3.54.1"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,8]],"date-time":"2017-11-08T00:00:00Z","timestamp":1510099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Non\u2010syndromic tooth agenesis (<jats:styled-content style=\"fixed-case\">NSTA<\/jats:styled-content>) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for <jats:styled-content style=\"fixed-case\">NSTA<\/jats:styled-content> are not clearly understood. We studied a group of 28 patients with sporadic <jats:styled-content style=\"fixed-case\">NSTA<\/jats:styled-content> and nine patients with a family history of tooth agenesis. We focused on four genes \u2013 paired box 9 (<jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic>), Wnt family member 10A (<jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic>), msh homeobox 1 (<jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>), and axin 2 (<jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic>) \u2013 using direct Sanger sequencing of the exons and intron\u2013exon boundaries. The most prevalent variants identified in <jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic> genes were analyzed using the chi\u2010square test. The sequencing results revealed a number of variants in the <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic> gene, including one novel missense mutation in one patient with agenesis of a single second premolar. We also identified one variant in the <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic> gene as being a putative risk factor for tooth agenesis. Only one missense mutation was identified in the <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> gene and this mutation was found in two patients. Interestingly, <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> is reported as the most prevalent gene mutated in the European population with <jats:styled-content style=\"fixed-case\">NSTA<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/eos.12391","type":"journal-article","created":{"date-parts":[[2017,11,8]],"date-time":"2017-11-08T09:12:44Z","timestamp":1510132364000},"page":"24-32","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genetic study of non\u2010syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case\u2010series"],"prefix":"10.1111","volume":"126","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1689-4646","authenticated-orcid":false,"given":"Marwa","family":"Haddaji Mastouri","sequence":"first","affiliation":[{"name":"Department of Human Cytogenetics Molecular Genetics and Reproductive Biology Farhat Hached University Hospital Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"De Coster","sequence":"additional","affiliation":[{"name":"Department of Restorative Dentistry, Endodontology and Oral Biology Ghent University Hospital Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aicha","family":"Zaghabani","sequence":"additional","affiliation":[{"name":"Private Practice Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frej","family":"Jammali","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Farhat Hached University Hospital Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabiha","family":"Raouahi","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Farhat Hached University Hospital Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Ben Salem","sequence":"additional","affiliation":[{"name":"Private Practice Hamam lif Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Saad","sequence":"additional","affiliation":[{"name":"Department of Human Cytogenetics Molecular Genetics and Reproductive Biology Farhat Hached University Hospital Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorra","family":"H'mida Ben Brahim","sequence":"additional","affiliation":[{"name":"Department of Human Cytogenetics Molecular Genetics and Reproductive Biology Farhat Hached University Hospital Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.b.21277"},{"key":"e_1_2_7_3_1","unstructured":"ArteS.Phenotypic and genotypic features of familial hypodontia. 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