{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:06:00Z","timestamp":1762542360865},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,29]],"date-time":"2014-12-29T00:00:00Z","timestamp":1419811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Poznan University of Medical Sciences in Poland","award":["502-01-01124182-07474"],"award-info":[{"award-number":["502-01-01124182-07474"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Congenital maxillary lateral incisor agenesis (<jats:styled-content style=\"fixed-case\">MLIA<\/jats:styled-content>) is one of the most common subtypes of dental agenesis. Because little is known with regard to the aetiology of this anomaly, the aim of the study was to determine the contribution of nucleotide variants in wingless\u2010type <jats:styled-content style=\"fixed-case\">MMTV<\/jats:styled-content> integration site 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 paired box 9 (<jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic>) to the risk of <jats:styled-content style=\"fixed-case\">MLIA<\/jats:styled-content> in a Polish population. Coding regions of the selected genes were analysed by direct sequencing in a group of 20 individuals with unilateral and bilateral <jats:styled-content style=\"fixed-case\">MLIA<\/jats:styled-content>, associated or not with other dental anomalies. The frequencies of the identified nucleotide variants were assessed in an additional cohort of patients with isolated dental agenesis (<jats:italic>n<\/jats:italic>\u00a0=\u00a0147) and in 178 controls. Mutation screening showed four non\u2010synonymous substitutions located in the highly conserved coding sequence of <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> in five (25%) of the 20 patients. Analysis of genotyping results revealed that three of these variants \u2013 p.Arg113Cys, p.Phe228Ile, and the newly identified p.Arg171Leu \u2013 may represent aetiological mutations underlying <jats:styled-content style=\"fixed-case\">MLIA<\/jats:styled-content> with associated dental anomalies. No mutations that were potentially aetiologic were identified in <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic>. In conclusion, this is the first report implicating coding variants in the <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> gene in the aetiology of <jats:styled-content style=\"fixed-case\">MLIA<\/jats:styled-content>. These results will require further confirmation using larger\u2010scale studies.<\/jats:p>","DOI":"10.1111\/eos.12165","type":"journal-article","created":{"date-parts":[[2014,12,29]],"date-time":"2014-12-29T13:49:13Z","timestamp":1419860953000},"page":"1-8","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<i>WNT10A<\/i> coding variants and maxillary lateral incisor agenesis with associated dental anomalies"],"prefix":"10.1111","volume":"123","author":[{"given":"Adrianna","family":"Mostowska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Biedziak","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"},{"name":"Private Orthodontic Practice Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Zadurska","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Institute of Dentistry Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylwia","family":"Matuszewska\u2010Trojan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142 P.","family":"Jagodzi\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.2004.00158.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2008.00699.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/26.1.99"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2842.1994.tb01141.x"},{"key":"e_1_2_7_6_1","first-page":"263","article-title":"Hypodontia \u2013 a retrospective review of prevalence and etiology. 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