Advance of research on 22q11.2 deletion syndrome
10.3760/cma.j.cn511374-20230620-00375
- VernacularTitle:22q11.2缺失综合征的研究进展
- Author:
Huan ZHOU
1
;
Xiaojing WENG
Author Information
1. 扬州大学医学院附属淮安市妇幼保健院产科，淮安 223002
- Keywords:
22q11.2 deletion syndrome;
Pathogenic mechanism;
Incomplete penetrance
- From:
Chinese Journal of Medical Genetics
2024;41(8):994-1000
- CountryChina
- Language:Chinese
-
Abstract:
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder. Its phenotype is highly variable with incomplete penetrance. 22q11.2DS is a rare disease, and the research progress is relatively slow, which has restricted its treatment and intervention. In recent years, much progress has been made in the pathogenic mechanism and genome-wide association study of 22q11.2DS. In this review, the pathogenesis of 22q11.2DS was summarized. Thereafter, the molecular and pathological mechanisms of TBX1 and DGCR8 genes were clarified. Finally, factors affecting the penetrance of cardiac and immune system phenotypes were reviewed. This review may enhance the understanding of 22q11.2DS and has important clinical implications on the prenatal diagnosis, genetic counseling, treatment and intervention of this disease.
