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鉴定与中国家系中非综合征性少牙症相关的新型 MSX1 变异。

Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

机构信息

Department of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, PR China.

Department of Orthodontics, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, PR China.

出版信息

Mol Genet Genomic Med. 2024 Jan;12(1):e2334. doi: 10.1002/mgg3.2334. Epub 2023 Dec 8.

DOI:10.1002/mgg3.2334
PMID:38069551
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10767605/
Abstract

BACKGROUND: MSX1 (OMIM #142983) is crucial to normal dental development, and variants in MSX1 are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel MSX1 variants in Chinese families with non-syndromic oligodontia (NSO). METHODS: Genomic DNA was extracted from individuals representing 35 families with non-syndromic oligodontia and was analyzed by Sanger sequencing and whole-exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen-2, Sorting-Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of MSX1-related NSO were analyzed. MSX1 structural changes suggested functional consequences in vitro. RESULTS: Three previously unreported MSX1 heterozygous variants were identified: one insertion variant (c.576_577insTAG; p.Gln193*) and two missense variants (c. 871T>C; p.Tyr291His and c. 644A>C; p.Gln215Pro). Immunofluorescence analysis revealed abnormal subcellular localization of the p.Gln193* MSX1 variant. In addition, we found that these MSX1 variants likely lead to the loss of second premolars. CONCLUSION: Three novel MSX1 variants were identified in Chinese Han families with NSO, expanding the MSX1 variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families.

摘要

背景：MSX1（OMIM #142983）对正常牙齿发育至关重要，MSX1 中的变体与牙齿异常有关。本研究的目的是描述中国非综合征性少牙（NSO）家系中新型 MSX1 变体的致病性。

方法：从代表 35 个非综合征性少牙家系的个体中提取基因组 DNA，通过 Sanger 测序和全外显子组测序进行分析。通过 PolyPhen-2、Sorting-Intolerant from Tolerant 和 MutationTaster 分析以及变体保守性分析筛选致病性变体。分析 MSX1 相关 NSO 的模式。体外实验分析 MSX1 结构变化提示其功能后果。

结果：发现了三个以前未报道的 MSX1 杂合变体：一个插入变体（c.576_577insTAG;p.Gln193*）和两个错义变体（c.871T>C;p.Tyr291His 和 c.644A>C;p.Gln215Pro）。免疫荧光分析显示 p.Gln193* MSX1 变体的亚细胞定位异常。此外，我们发现这些 MSX1 变体可能导致第二前磨牙缺失。

结论：在中国汉族 NSO 家系中发现了三个新的 MSX1 变体，扩展了 MSX1 变体谱，并为患者及其家系中检测到的发病机制提供了遗传起源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/efe633816ea8/MGG3-12-e2334-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/ffe9539b3e16/MGG3-12-e2334-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/afb4cfdc3966/MGG3-12-e2334-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/78b97beabb19/MGG3-12-e2334-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/debdcd5bc53e/MGG3-12-e2334-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/efe633816ea8/MGG3-12-e2334-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/ffe9539b3e16/MGG3-12-e2334-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/afb4cfdc3966/MGG3-12-e2334-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/78b97beabb19/MGG3-12-e2334-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/debdcd5bc53e/MGG3-12-e2334-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/457b/10767605/efe633816ea8/MGG3-12-e2334-g006.jpg

相似文献

[1]
Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

Mol Genet Genomic Med. 2024-1

[2]
Novel MSX1 variants identified in families with nonsyndromic oligodontia.

Int J Oral Sci. 2021-1-8

[3]
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia.

Arch Oral Biol. 2008-8

[4]
Genotype-phenotype pattern analysis of pathogenic variants in Chinese Han families with non-syndromic oligodontia.

Front Genet. 2023-3-28

[5]
A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Clin Chim Acta. 2016-10-1

[6]
Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.

Arch Oral Biol. 2023-10

[7]
Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

Chin J Dent Res. 2015

[8]
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.

J Appl Oral Sci. 2023

[9]
A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia.

Ann Hum Genet. 2020-1

[10]
Two novel mutations in MSX1 causing oligodontia.

PLoS One. 2020-1-8

引用本文的文献

[1]
Genotype-phenotype analysis and functional study of three novel variants in non-syndromic oligodontia.

Front Genet. 2025-6-4

[2]
Genetic Aspects of Tooth Agenesis.

Genes (Basel). 2025-5-15

[3]
Novel Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

Children (Basel). 2024-11-24

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