{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:13:06Z","timestamp":1788257586298,"version":"build-2803163510"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T00:00:00Z","timestamp":1599696000000},"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":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to explore the genetic basis of non\u2010syndromic tooth agenesis (TA) in a Chinese family of five individuals using whole\u2010exome sequencing (WES) analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Settings and sample population<\/jats:title><jats:p>Five participants\/Family\u2010based study of a non\u2010syndromic TA proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The proband, proband's mother and grandmother displayed congenital tooth deficiency. Genomic DNA was extracted from the peripheral blood or saliva samples of the proband, her parents and her grandmother, and WES was utilized to identify the causal genetic mutation. The identified mutation was further verified by Sanger sequencing and analysed using bioinformatics tools.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel missense mutation, c.G711T (p.L237F), was identified in the <jats:italic>low\u2010density lipoprotein receptor\u2010related protein 6<\/jats:italic> (<jats:italic>LRP6<\/jats:italic>) gene in all affected individuals. Bioinformatics analysis predicted the mutation to be deleterious, with the mutant LRP6 protein displaying a tertiary structural change that might disturb the Wnt\/\u03b2\u2010catenin signalling pathway.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The identification of the mutation in the LRP6 gene and autosomal dominant inheritance with TA in the generations is consistent with the mutation being responsible for TA in the family, and furthers the association of LRP6 with nonsyndromic TA.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12424","type":"journal-article","created":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T19:23:19Z","timestamp":1598469799000},"page":"233-240","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A novel missense mutation of <i>LRP6<\/i> identified by whole\u2010exome sequencing in a Chinese family with non\u2010syndromic tooth agenesis"],"prefix":"10.1111","volume":"24","author":[{"given":"Huijuan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry Stomatological Hospital of Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Basic Medical Sciences Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yafei","family":"Zheng","sequence":"additional","affiliation":[{"name":"University Student Innovation and Entrepreneurship Guidance Center Tianjin Medical College  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxue","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Tianjin Stomatological Hospital  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiyi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Stomatological Hospital of Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Stomatological Hospital of Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5350-5879","authenticated-orcid":false,"given":"Xiangyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Stomatological Hospital of Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/16.2.104"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.2004.00158.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01170.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1597\/11-123"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.4317\/medoral.19158"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/19.2.151"},{"issue":"1","key":"e_1_2_8_8_1","first-page":"54","article-title":"Prosthodontic treatment of congenital tooth agenesis I. 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