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一个患有少牙症的日本家族中的一种新型低密度脂蛋白受体相关蛋白6（LRP6）变体。

A novel LRP6 variant in a Japanese family with oligodontia.

作者信息

Goto Hiroki, Kimura Masashi, Machida Junichiro, Ota Akiko, Nakashima Mitsuko, Tsuchida Naomi, Adachi Junya, Aoki Yoshihiko, Tatematsu Tadashi, Takahashi Katsu, Sana Masatoshi, Nakayama Atsuo, Suzuki Shintaro, Nagao Toru, Matsumoto Naomichi, Tokita Yoshihito

机构信息

Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.

Department of Oral and Maxillofacial Surgery, Toyokawa City Hospital, Toyokawa, Japan.

出版信息

Hum Genome Var. 2021 Jul 20;8(1):30. doi: 10.1038/s41439-021-00162-w.

DOI:10.1038/s41439-021-00162-w
PMID:34285199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8292333/
Abstract

Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6 gene, the product of which is involved in Wnt/β-catenin signaling as a coreceptor for Wnt ligands. The single-nucleotide insertion results in a premature stop codon in the extracellular region of the encoded protein.

摘要

先天性牙齿缺失是人类发育中常见的异常情况。我们对从患有牙齿缺失的日本患者及其亲属收集的基因组DNA进行了外显子组序列分析。我们在LRP6基因中发现了一个新的单核苷酸插入，该基因的产物作为Wnt配体的共受体参与Wnt/β-连环蛋白信号传导。该单核苷酸插入导致编码蛋白的细胞外区域出现提前终止密码子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6438/8292333/04ceb3ae46d8/41439_2021_162_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6438/8292333/e0c48d62063c/41439_2021_162_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6438/8292333/04ceb3ae46d8/41439_2021_162_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6438/8292333/e0c48d62063c/41439_2021_162_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6438/8292333/04ceb3ae46d8/41439_2021_162_Fig2_HTML.jpg

相似文献

[1]
A novel LRP6 variant in a Japanese family with oligodontia.

Hum Genome Var. 2021-7-20

[2]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

[3]
Synergistic Mutations of and in Familial Tooth Agenesis.

J Pers Med. 2021-11-17

[4]
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Hum Genome Var. 2023-1-26

[5]
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

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

Front Genet. 2021-7-7

[7]
Mouse cristin/R-spondin family proteins are novel ligands for the Frizzled 8 and LRP6 receptors and activate beta-catenin-dependent gene expression.

J Biol Chem. 2006-5-12

[8]
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Hum Genome Var. 2021-7-20

[9]
Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6.

Curr Biol. 2001-6-26

[10]
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Int J Mol Med. 2016-11

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]
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Hum Genome Var. 2024-1-23

[3]
Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development.

Organogenesis. 2023-12-31

[4]
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Hum Genome Var. 2023-1-26

[5]
Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.

Curr Osteoporos Rep. 2022-12

[6]
Novel Mutations Causing Non-Syndromic Oligodontia.

J Pers Med. 2022-8-29

[7]
LRP6 Receptor Plays Essential Functions in Development and Human Diseases.

Genes (Basel). 2022-1-10

[8]
Synergistic Mutations of and in Familial Tooth Agenesis.

J Pers Med. 2021-11-17

本文引用的文献

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

J Dent Res. 2021-4

[2]
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.

J Hum Genet. 2021-4

[3]
High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

Bone. 2020-12

[4]
WNT10A variants isolated from Japanese patients with congenital tooth agenesis.

Hum Genome Var. 2017-11-9

[5]
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Genet Med. 2016-11

[6]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

[7]
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

PLoS One. 2015-6-1

[8]
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.

PLoS One. 2014-8-7

[9]
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

Clin Genet. 2015-8

[10]
Mutations in WNT10A are present in more than half of isolated hypodontia cases.

J Med Genet. 2012-5

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