Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans

Abstract Low-density lipoprotein receptor-related protein 6 (LRP6) 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 Lrp6-deficient mice, it has been rarely discovered in humans with LRP6 mutations....

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Autores principales:	Liutao Zhang, Miao Yu, Kai Sun, Zhuangzhuang Fan, Haochen Liu, Hailan Feng, Yang Liu, Dong Han
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/0f5f01fad42d4d5981731dcaf8e1df2b
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spelling	oai:doaj.org-article:0f5f01fad42d4d5981731dcaf8e1df2b2021-11-14T12:44:41ZRare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans10.1038/s41525-021-00262-02056-7944https://doaj.org/article/0f5f01fad42d4d5981731dcaf8e1df2b2021-11-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00262-0https://doaj.org/toc/2056-7944Abstract Low-density lipoprotein receptor-related protein 6 (LRP6) 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 Lrp6-deficient mice, it has been rarely discovered in humans with LRP6 mutations. Here, we demonstrate an unreported autosomal dominant LRP6 heterozygous mutation (c.2840 T > C;p.Met947Thr) in a tooth agenesis family with hand polydactyly, and another unreported autosomal dominant LRP6 heterozygous mutation (c.1154 G > C;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 LRP6-related tooth agenesis demonstrated the maxillary lateral incisor was the most affected. Our study report that LRP6 mutation might be associated with hand preaxial polydactyly in humans, which broaden the phenotypic spectrum of LRP6-related disorders, and provide valuable information on the characteristics of LRP6-related tooth agenesis.Liutao ZhangMiao YuKai SunZhuangzhuang FanHaochen LiuHailan FengYang LiuDong HanNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Liutao Zhang Miao Yu Kai Sun Zhuangzhuang Fan Haochen Liu Hailan Feng Yang Liu Dong Han Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
description	Abstract Low-density lipoprotein receptor-related protein 6 (LRP6) 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 Lrp6-deficient mice, it has been rarely discovered in humans with LRP6 mutations. Here, we demonstrate an unreported autosomal dominant LRP6 heterozygous mutation (c.2840 T > C;p.Met947Thr) in a tooth agenesis family with hand polydactyly, and another unreported autosomal dominant LRP6 heterozygous mutation (c.1154 G > C;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 LRP6-related tooth agenesis demonstrated the maxillary lateral incisor was the most affected. Our study report that LRP6 mutation might be associated with hand preaxial polydactyly in humans, which broaden the phenotypic spectrum of LRP6-related disorders, and provide valuable information on the characteristics of LRP6-related tooth agenesis.
format	article
author	Liutao Zhang Miao Yu Kai Sun Zhuangzhuang Fan Haochen Liu Hailan Feng Yang Liu Dong Han
author_facet	Liutao Zhang Miao Yu Kai Sun Zhuangzhuang Fan Haochen Liu Hailan Feng Yang Liu Dong Han
author_sort	Liutao Zhang
title	Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title_short	Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title_full	Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title_fullStr	Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title_full_unstemmed	Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title_sort	rare phenotype: hand preaxial polydactyly associated with lrp6-related tooth agenesis in humans
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/0f5f01fad42d4d5981731dcaf8e1df2b
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Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans

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