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Med."],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Low-density lipoprotein receptor-related protein 6 (<jats:italic>LRP6<\/jats:italic>) is a pathogenic gene of selective tooth agenesis-7 (OMIM#616724). Although the malformation of the digits and fore- and hindlimbs has been reported in<jats:italic>Lrp6-<\/jats:italic>deficient mice, it has been rarely discovered in humans with<jats:italic>LRP6<\/jats:italic>mutations. Here, we demonstrate an unreported autosomal dominant<jats:italic>LRP6<\/jats:italic>heterozygous mutation (c.2840\u2009T\u2009&gt;\u2009C;p.Met947Thr) in a tooth agenesis family with hand polydactyly, and another unreported autosomal dominant<jats:italic>LRP6<\/jats:italic>heterozygous mutation (c.1154\u2009G\u2009&gt;\u2009C;p.Arg385Pro) in a non-syndromic tooth agenesis family. Bioinformatic prediction demonstrated the deleterious effects of the mutations, and LRP6 structure changes suggested the corresponding functional impairments. Analysis on the pattern of<jats:italic>LRP6<\/jats:italic>-related tooth agenesis demonstrated the maxillary lateral incisor was the most affected. Our study report that<jats:italic>LRP6<\/jats:italic>mutation might be associated with hand preaxial polydactyly in humans, which broaden the phenotypic spectrum of<jats:italic>LRP6<\/jats:italic>-related disorders, and provide valuable information on the characteristics of<jats:italic>LRP6<\/jats:italic>-related tooth agenesis.<\/jats:p>","DOI":"10.1038\/s41525-021-00262-0","type":"journal-article","created":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T11:05:20Z","timestamp":1636542320000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans"],"prefix":"10.1038","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1637-3771","authenticated-orcid":false,"given":"Liutao","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8608-8354","authenticated-orcid":false,"given":"Miao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuangzhuang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haochen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hailan","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9625-3384","authenticated-orcid":false,"given":"Dong","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,10]]},"reference":[{"key":"262_CR1","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.ajhg.2015.08.014","volume":"97","author":"MP Massink","year":"2015","unstructured":"Massink, M. 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