{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T14:42:49Z","timestamp":1768747369578,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Causative variants in genes of the EDA\/EDAR\/NF\u2010\u03baB pathway, such as <jats:italic>EDA<\/jats:italic> and <jats:italic>EDARADD<\/jats:italic>, have been widely identified in patients with non\u2010syndromic tooth agenesis (NSTA). However, few cases of NSTA are due to ectodysplasin\u2010A receptor (<jats:italic>EDAR<\/jats:italic>) variants. In this study, we investigated NSTA\u2010associated variants in Chinese families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Peripheral blood samples were collected from the family members of 24 individuals with NSTA for DNA extraction. The coding region of the <jats:italic>EDA<\/jats:italic> gene of the 24 probands was amplified by PCR and sequenced to investigate new variants. Whole\u2010exome sequencing and Sanger sequencing were then performed for probands without <jats:italic>EDA<\/jats:italic> variants detected by PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel missense variant <jats:italic>EDAR<\/jats:italic> c.338G&gt;A (p.(Cys113Tyr)) was identified in one family. In addition, three known <jats:italic>EDA<\/jats:italic> variants (c.865C&gt;T, c.866G&gt;A, and c.1013C&gt;T) were identified in three families. Genotype\u2013phenotype correlation analysis of <jats:italic>EDAR<\/jats:italic> gene mutation showed that NSTA patients were most likely to lose the maxillary lateral incisors and the maxillary central incisors were the least affected. The phenotype of mutations at codon 289 of <jats:italic>EDA<\/jats:italic> in NSTA affected patients was characterized by lateral incisors loss, rarely affecting the maxillary first molars.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A novel <jats:italic>EDAR<\/jats:italic> missense variant c.338G&gt;A (p.(Cys113Tyr)) was identified in a family with NSTA, extending the mutation spectrum of the <jats:italic>EDAR<\/jats:italic> gene. Genotype\u2013phenotype correlation analyses of <jats:italic>EDAR<\/jats:italic> and <jats:italic>EDA<\/jats:italic> mutations could help to improve disease status prediction in NSTA families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1684","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T09:46:15Z","timestamp":1620121575000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel <i>EDAR<\/i> missense mutation identified by whole\u2010exome sequencing with non\u2010syndromic tooth agenesis in a Chinese family"],"prefix":"10.1002","volume":"9","author":[{"given":"Hongyu","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2397-5735","authenticated-orcid":false,"given":"Xuanting","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiabao","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuo","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingqiang","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guozhong","family":"Zhang","sequence":"additional","affiliation":[{"name":"College of Forensic Medicine Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingqing","family":"Du","sequence":"additional","affiliation":[{"name":"College of Forensic Medicine Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics Hebei Key Laboratory of Stomatology Hebei Clinical Research Center for Oral Diseases School and Hospital of Stomatology Hebei Medical University Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,4]]},"reference":[{"key":"e_1_2_10_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13587"},{"key":"e_1_2_10_1_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073705"},{"key":"e_1_2_10_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_10_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2008.00699.x"},{"key":"e_1_2_10_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14874"},{"key":"e_1_2_10_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.06.002"},{"issue":"4","key":"e_1_2_10_1_8_1","first-page":"686","article-title":"EDA mutation screening and phenotype analysis in patients with tooth agenesis","volume":"48","author":"He H. 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