Research progress on congenital heart disease-related TBX5 mutations
10.3760/cma.j.cn101441-20231108-00212
- VernacularTitle:先天性心脏病相关 TBX5突变的研究进展
- Author:
Wenbo LI
1
;
Yuan ZHANG
;
Qianqian ZHU
;
Tianyu LIU
;
Maohua ZHONG
;
Xiu XU
;
Zhen'ao ZHAO
Author Information
1. 河北北方学院基础医学院，张家口 075000
- Publication Type:Journal Article
- Keywords:
Congenital heart disease;
Preimplantation genetic testing for monogenic disease;
TBX5;
Gene mutation
- From:
Chinese Journal of Reproduction and Contraception
2024;44(8):879-885
- CountryChina
- Language:Chinese
-
Abstract:
Congenital heart diseases (CHDs) seriously affect human health, and genetic mutation is closely related to the occurrence of CHDs. In the process of assisted reproduction, the use of methods such as polar body biopsy, blastomere biopsy and blastocyst biopsy, combined with single-cell DNA amplification and high-throughput sequencing technology, can accurately detect pathogenic mutations associated with single-gene genetic diseases in pre-implantation embryos. T-box transcription factor 5 (TBX5) is an important transcription factor for heart and upper limb development. It is reported 227 TBX5 mutations are related to CHDs. Preimplantation genetic testing for monogenic disease (PGT-M) to detect CHD-related TBX5 mutations in embryos is of great significance for preventing the occurrence of CHDs. In this review, we systematically summarized the TBX5 mutation information, and analyzed the deleterious effects of TBX5 missense mutations based on familial genetic data, animal models, induced pluripotent stem cell disease models and prediction software to provide references for the detection of CHD-related TBX5 mutations using PGT-M.
