{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T09:02:36Z","timestamp":1770541356977,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Here, we describe a new observation of significant oligodontia in a female patient with the <jats:italic>EDA<\/jats:italic> gene variant c.742\u20102A&gt;G.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results strongly suggest that the <jats:italic>EDA<\/jats:italic> gene variant c.742\u20102A&gt;G is pathogenic. The oligodontia in the proband was exceptionally severe.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We demonstrate that the very rare splice acceptor variant <jats:italic>EDA<\/jats:italic> c.742\u20102A&gt;G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow\u2010up in time by a multidisciplinary team.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2275","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T11:58:51Z","timestamp":1693828731000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the <scp><i>EDA<\/i><\/scp> splice acceptor variant c.742\u20102A&gt;G"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2313-8099","authenticated-orcid":false,"given":"Vivian","family":"Reinhold","sequence":"first","affiliation":[{"name":"Institute of Biomedicine University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stina","family":"Syrj\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology and Radiology, Faculty of Medicine University of Turku  Turku Finland"},{"name":"Department of Pathology Turku University Hospital, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4276-2970","authenticated-orcid":false,"given":"Minna","family":"Kankuri\u2010Tammilehto","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Turku University Hospital  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.7603\/s40681\u2010014\u20100027\u20109"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910808701205"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.3.181"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537\u2010200206000\u201000005"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4899-0522-2_12"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.5005\/jp\u2010journals\u201010005\u20101165"},{"key":"e_1_2_11_8_1","volume-title":"Clinical pedodontics","author":"Finn S. B.","year":"1967"},{"issue":"3","key":"e_1_2_11_9_1","first-page":"90","article-title":"Hypohidrotic ectodermal dysplasia: A case report","volume":"17","author":"Gopinath V. K.","year":"1999","journal-title":"Journal of the Indian Society of Pedodontics and Preventive Dentistry"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30033"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.26.1.g156r02u66w30729"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895\u2010409"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u201015\u201057"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/bcp.14301"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001735\u20102"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601\u20100825.1997.tb00045.x"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514522059"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2008.01037.x"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/002215549804600301"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32801"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.01.012"},{"key":"e_1_2_11_22_1","first-page":"375","article-title":"Prosthetic management in anhidrotic ectodermal dysplasia: Report of case","volume":"43","author":"Oliver R. D.","year":"1975","journal-title":"Journal of Dentistry for Children"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.33"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.27.1.345464t2535105x1"},{"issue":"4","key":"e_1_2_11_25_1","first-page":"52","article-title":"Prevention and treatment options for medication\u2010induced xerostomia","volume":"67","author":"Quilici D.","year":"2019","journal-title":"General Dentistry"},{"issue":"1","key":"e_1_2_11_26_1","first-page":"36","article-title":"Total anodontia in patient with hypohidrotic ectodermal dysplasia. Report of rare case of Christ\u2010Siemens Touraine syndrome","volume":"77","author":"Sholapurkar A. A.","year":"2011","journal-title":"The New York State Dental Journal"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034508328627"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.5005\/jp\u2010journals\u201010005\u20101124"},{"issue":"1","key":"e_1_2_11_29_1","first-page":"37","article-title":"Hereditary ectodermal dysplasia: A case report","volume":"20","author":"Suprabha B. S.","year":"2002","journal-title":"Journal of Indian Society of Pedodontics and Preventive Dentistry"},{"key":"e_1_2_11_30_1","volume-title":"GeneReviews\u00ae","author":"Wright J. T.","year":"2022"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T06:39:17Z","timestamp":1720247957000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,4]]},"references-count":29,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/mgg3.2275"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2275","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,4]]},"assertion":[{"value":"2022-12-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2275"}}