Research progress on mechanism of TBX1 gene affecting phenotype of 22q11.2 microdeletion syndrome

VernacularTitle: TBX1基因影响22q11.2微缺失综合征表型的作用机制研究进展
Author: Yue LU ¹ ; Le-le LIU ² ; Ya-li LI ¹
Author Information

1. Department of Reproductive Genetics, Hebei General Hospital,Shijiazhuang 050000, Hebei, China
2. Graduate School,North China University of Science and Technology, Tangshan 063000, Hebei , China
Publication Type:Journal Article
Keywords: 22q11microdeletion syndrome; digeorge syndrome; TBX1; phenotype; velo-cardio-facial syndrome
From: Journal of Medical Postgraduates 2020;33(6):664-668
CountryChina
Language:Chinese
Abstract: 22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21-q11.23 in the proximal long arm microfragment of chromosome 22 for human. TBX1 belongs to the T-box family and is located in 22q11.2 of chromosome. Studies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome, which is of great significance for the appearance of its phenotype. Therefore, this paper reviews the research progress of TBX1 in the mechanism of cardiac disease, pulmonary artery phenotype, thymus development, pharyngeal and palatal development, lymphatic formation, and low proliferation of parathyroid tumors.