{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:41:31Z","timestamp":1771904491866,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University","doi-asserted-by":"publisher","award":["YG2016ZD01"],"award-info":[{"award-number":["YG2016ZD01"]}],"id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify potentially pathogenic mutations for tooth agenesis by whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Ten Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis were included. Whole\u2010exome sequencing was performed using genomic DNA. Potentially pathogenic mutations were identified after data filtering and screening. The pathogenicity of novel variants was investigated by segregation analysis, in silico analysis, and functional studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C&gt;T, and c.1013C&gt;T) in <jats:italic>EDA<\/jats:italic> were identified in families with ectodermal dysplasia. The novel <jats:italic>EDA<\/jats:italic> mutation was co\u2010segregated with phenotype. A functional study revealed that NF\u2010\u03baB activation was compromised by the identified mutations. The secretion of active EDA was also compromised detection by western blotting. Novel <jats:italic>Wnt10A<\/jats:italic> mutations (c.521T&gt;C and c.653T&gt;G) and <jats:italic>EVC2<\/jats:italic> mutation (c.1472C&gt;T) were identified in families with selective tooth agenesis. The <jats:italic>Wnt10A<\/jats:italic> c.521T&gt;C mutation and the <jats:italic>EVC2<\/jats:italic> c.1472C&gt;T mutation were considered as pathogenic for affecting highly conserved amino acids, co\u2010segregated with phenotype and predicted to be disease\u2010causing by SIFT and PolyPhen2. Moreover, several reported mutations in <jats:italic>PAX9, Wnt10A,<\/jats:italic> and<jats:italic> FGFR3<\/jats:italic> were also detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study expanded our knowledge on tooth agenesis spectrum by identifying novel variants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.13002","type":"journal-article","created":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T10:44:43Z","timestamp":1542019483000},"page":"523-534","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Novel mutations identified in patients with tooth agenesis by whole\u2010exome sequencing"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8857-2921","authenticated-orcid":false,"given":"Kai","family":"Zhao","sequence":"first","affiliation":[{"name":"Second Dental Clinic, Department of Oral Implantology, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meifei","family":"Lian","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Shanghai Ninth People\u2019s Hospital Affiliated with Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duohong","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Oral Implantology, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Second Dental Clinic, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihan","family":"Shen","sequence":"additional","affiliation":[{"name":"Second Dental Clinic, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oral Implantology, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqun","family":"Wu","sequence":"additional","affiliation":[{"name":"Second Dental Clinic, Department of Oral Implantology, Ninth People\u2019s Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology, Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/520064"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36243"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.001"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509678103"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.11.005"},{"issue":"5","key":"e_1_2_8_9_1","first-page":"491","article-title":"A framework for variation discovery and genotyping using next\u2010generation DNA sequencing data","volume":"43","author":"DePristo M. 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