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

作者信息

Zhang Liutao, Yu Miao, Sun Kai, Fan Zhuangzhuang, Liu Haochen, Feng Hailan, Liu Yang, Han Dong

机构信息

Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Ministry of Health & NMPA Key Laboratory for Dental Materials, Beijing, People's Republic of China.

Department of Dentistry, Beijing Jishuitan Hospital, Beijing, People's Republic of China.

出版信息

NPJ Genom Med. 2021 Nov 10;6(1):93. doi: 10.1038/s41525-021-00262-0.

DOI:10.1038/s41525-021-00262-0
PMID:34759310
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8581002/
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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/cfd68f6cc196/41525_2021_262_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/aa46aa946614/41525_2021_262_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/db4fcbe86551/41525_2021_262_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/cfd68f6cc196/41525_2021_262_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/aa46aa946614/41525_2021_262_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/db4fcbe86551/41525_2021_262_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c54/8581002/cfd68f6cc196/41525_2021_262_Fig3_HTML.jpg

相似文献

[1]
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

NPJ Genom Med. 2021-11-10

[2]
Dynamic Expression in Tooth Development and Mutations in Oligodontia.

J Dent Res. 2021-4

[3]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

[4]
A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.

Orthod Craniofac Res. 2021-5

[5]
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

Bone. 2019-5-11

[6]
Investigation of a Novel Variant Causing Autosomal-Dominant Tooth Agenesis.

Front Genet. 2021-7-7

[7]
Synergistic Mutations of and in Familial Tooth Agenesis.

J Pers Med. 2021-11-17

[8]
High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

Bone. 2020-12

[9]
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Genet Med. 2016-11

[10]
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

J Dent Res. 2013-4-19

引用本文的文献

[1]
Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Genes (Basel). 2025-7-24

[2]
Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human.

Genes Dis. 2025-1-22

[3]
Genotype-phenotype analysis and functional study of three novel variants in non-syndromic oligodontia.

Front Genet. 2025-6-4

[4]
LRP6/filamentous-actin signaling facilitates osteogenic commitment in mechanically induced periodontal ligament stem cells.

Cell Mol Biol Lett. 2023-1-24

[5]
Novel Mutations Causing Non-Syndromic Oligodontia.

J Pers Med. 2022-8-29

[6]
Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia.

Clin Oral Investig. 2022-8

本文引用的文献

[1]
Dynamic Expression in Tooth Development and Mutations in Oligodontia.

J Dent Res. 2021-4

[2]
A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.

Orthod Craniofac Res. 2021-5

[3]
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Eur J Hum Genet. 2019-7-22

[4]
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report.

Mol Genet Genomic Med. 2019-4-4

[5]
Genetic regulatory pathways of split-hand/foot malformation.

Clin Genet. 2018-9-10

[6]
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

J Med Genet. 2018-3-2

[7]
Polydactyly of the Hand.

J Am Acad Orthop Surg. 2018-2-1

[8]
Genetic Overview of Syndactyly and Polydactyly.

Plast Reconstr Surg Glob Open. 2017-11-2

[9]
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

J Dent Res. 2018-1

[10]
Surrogate Wnt agonists that phenocopy canonical Wnt and β-catenin signalling.

Nature. 2017-5-11

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