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一名日本少牙症患者中WNT10A基因的新型移码变异体。

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

作者信息

Ando Michiyo, Aoki Yoshihiko, Sano Yasuto, Adachi Junya, Sana Masatoshi, Miyabe Satoru, Watanabe Satoshi, Hasegawa Shogo, Miyachi Hitoshi, Machida Junichiro, Goto Mitsuo, Tokita Yoshihito

机构信息

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

Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.

出版信息

Hum Genome Var. 2024 Jan 23;11(1):5. doi: 10.1038/s41439-023-00259-4.

DOI:10.1038/s41439-023-00259-4
PMID:38263268
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10806032/
Abstract

Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. Thus, we concluded that the variant was the genetic cause of the patient's agenesis.

摘要

先天性牙齿缺失是由与牙齿发育相关的关键基因受损引起的，如Wnt信号通路基因。在此，我们研究了散发性先天性牙齿缺失的遗传原因。外显子组测序，随后进行桑格测序，在WNT10A基因中发现了一个新的单核苷酸缺失（NC_000002.12(NM_025216.3):c.802del），该缺失在患者的健康父母中未发现。因此，我们得出结论，该变异是患者牙齿缺失的遗传原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d25/10806032/51ab2051ac30/41439_2023_259_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d25/10806032/8425843b62fb/41439_2023_259_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d25/10806032/51ab2051ac30/41439_2023_259_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d25/10806032/8425843b62fb/41439_2023_259_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d25/10806032/51ab2051ac30/41439_2023_259_Fig2_HTML.jpg

相似文献

[1]
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Hum Genome Var. 2024-1-23

[2]
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Int J Mol Med. 2016-11

[3]
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Hum Genome Var. 2023-1-26

[4]
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Clin Genet. 2012-12-7

[5]
WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.

J Genet. 2018-12

[6]
Functional Effects of Rare Variants Associated with Tooth Agenesis.

J Dent Res. 2021-3

[7]
Deleterious Variants in , and Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Int J Mol Sci. 2019-10-24

[8]
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

BMC Oral Health. 2024-1-27

[9]
WNT10A mutation results in severe tooth agenesis in a family of three sisters.

Orthod Craniofac Res. 2018-6-21

[10]
WNT10A and RUNX2 mutations associated with non-syndromic tooth agenesis.

Eur J Oral Sci. 2022-12

本文引用的文献

[1]
Tooth agenesis: An overview of diagnosis, aetiology and management.

Jpn Dent Sci Rev. 2023-12

[2]
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Hum Genome Var. 2023-1-26

[3]
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.

Clin Genet. 2022-10

[4]
Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.

Oral Dis. 2023-7

[5]
Analyses of oligodontia phenotypes and genetic etiologies.

Int J Oral Sci. 2021-9-30

[6]
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Hum Genome Var. 2021-7-20

[7]
A novel LRP6 variant in a Japanese family with oligodontia.

Hum Genome Var. 2021-7-20

[8]
WNT10A, dermatology and dentistry.

Br J Dermatol. 2021-12

[9]
WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.

J Genet. 2018-12

[10]
WNT10A variants isolated from Japanese patients with congenital tooth agenesis.

Hum Genome Var. 2017-11-9

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