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

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...

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Autores principales: Zhang, Liutao, Yu, Miao, Sun, Kai, Fan, Zhuangzhuang, Liu, Haochen, Feng, Hailan, Liu, Yang, Han, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581002/
https://www.ncbi.nlm.nih.gov/pubmed/34759310
http://dx.doi.org/10.1038/s41525-021-00262-0
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author Zhang, Liutao
Yu, Miao
Sun, Kai
Fan, Zhuangzhuang
Liu, Haochen
Feng, Hailan
Liu, Yang
Han, Dong
author_facet Zhang, Liutao
Yu, Miao
Sun, Kai
Fan, Zhuangzhuang
Liu, Haochen
Feng, Hailan
Liu, Yang
Han, Dong
author_sort Zhang, Liutao
collection PubMed
description 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.
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spelling pubmed-85810022021-11-15 Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans Zhang, Liutao Yu, Miao Sun, Kai Fan, Zhuangzhuang Liu, Haochen Feng, Hailan Liu, Yang Han, Dong NPJ Genom Med Case Report 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. Nature Publishing Group UK 2021-11-10 /pmc/articles/PMC8581002/ /pubmed/34759310 http://dx.doi.org/10.1038/s41525-021-00262-0 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Zhang, Liutao
Yu, Miao
Sun, Kai
Fan, Zhuangzhuang
Liu, Haochen
Feng, Hailan
Liu, Yang
Han, Dong
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581002/
https://www.ncbi.nlm.nih.gov/pubmed/34759310
http://dx.doi.org/10.1038/s41525-021-00262-0
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