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日本非综合征性少牙症病例中的新型WNT10A变体。

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

作者信息

Adachi Junya, Aoki Yoshihiko, Izumi Hiroto, Nishiyama Takeshi, Nakayama Atsuo, Sana Masatoshi, Morimoto Kyoko, Kaetsu Atsuo, Shirozu Takamasa, Osumi Eriko, Matsuoka Michiko, Hayakawa Eri, Maeda Nasel, Machida Junichiro, Nagao Toru, Tokita Yoshihito

机构信息

Department of Oral and Maxillofacial Surgery, Toyohashi Municipal Hospital, Toyohashi, Japan.

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

出版信息

Hum Genome Var. 2023 Jan 26;10(1):3. doi: 10.1038/s41439-023-00230-3.

DOI:10.1038/s41439-023-00230-3
PMID:36702846
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9879990/
Abstract

Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A > T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case.

摘要

先天性牙齿缺失是人类最常见的异常之一。许多遗传因素参与牙齿发育，包括MSX1、PAX9、WNT10A和LRP6。因此，这些基因的突变可导致人类先天性牙齿缺失。在本研究中，我们在一例散发型先天性牙齿缺失病例中鉴定出一种新的WNT10A无义变异体，NM_025216.3（WNT10A_v001）：c.1090A>T，其产生C末端截短的基因产物p.（Lys364*）。在健康父母中未发现该变异体，因此被认为是导致该病例先天性牙齿缺失的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6c/9879990/d1a23e35737d/41439_2023_230_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6c/9879990/5431c2b3a755/41439_2023_230_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6c/9879990/d1a23e35737d/41439_2023_230_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6c/9879990/5431c2b3a755/41439_2023_230_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6c/9879990/d1a23e35737d/41439_2023_230_Fig2_HTML.jpg

相似文献

[1]
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Hum Genome Var. 2023-1-26

[2]
Screening , and Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis.

Avicenna J Med Biotechnol. 2020

[3]
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

[4]
Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.

Eur J Oral Sci. 2014-2

[5]
Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Oral Dis. 2018-7-23

[6]
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.

J Orofac Orthop. 2022-10

[7]
Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Clin Oral Investig. 2019-2-26

[8]
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Int J Mol Med. 2016-11

[9]
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Clin Genet. 2012-12-7

[10]
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Hum Genome Var. 2021-7-20

引用本文的文献

[1]
The fundamentals of WNT10A.

Differentiation. 2025

[2]
Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.

Ann Med Surg (Lond). 2024-3-19

[3]
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Hum Genome Var. 2024-1-23

本文引用的文献

[1]
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Hum Genome Var. 2021-7-20

[2]
A novel LRP6 variant in a Japanese family with oligodontia.

Hum Genome Var. 2021-7-20

[3]
Crystal structure of a mammalian Wnt-frizzled complex.

Nat Struct Mol Biol. 2019-4-29

[4]
A novel PITX2 mutation causing iris hypoplasia.

Hum Genome Var. 2014-7-31

[5]
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

[6]
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.

PLoS One. 2014-8-7

[7]
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

Clin Genet. 2015-8

[8]
The dentition: the outcomes of morphogenesis leading to variations of tooth number, size and shape.

Aust Dent J. 2014-3-20

[9]
Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.

Eur J Oral Sci. 2014-2

[10]
Current understanding of the process of tooth formation: transfer from the laboratory to the clinic.

Aust Dent J. 2013-11-17

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