Advances in epigenetic modification genes in rare diseases with abnormal cardiac development
10.3760/cma.j.issn.1673-4408.2022.10.001
- VernacularTitle:心脏发育异常相关罕见病的表观遗传修饰基因研究进展
- Author:
Shaojie MIN
1
;
Guixiang TIAN
;
Wei SHENG
Author Information
1. 复旦大学附属儿科医院，上海 201102
- Keywords:
Epigenetic modification gene;
Abnormal cardiac development;
Molecular genetic mechanism;
Rare disease
- From:
International Journal of Pediatrics
2022;49(10):649-653
- CountryChina
- Language:Chinese
-
Abstract:
Epigenetic modification genes are defined as genes whose products modify the epigenome directly through DNA methylation, histone modification or chromatin remodeling.More and more studies have shown that mutations in epigenetic modification genes are an important etiology of rare diseases with abnormal cardiac development.And these diseases usually affect multiple organs including heart due to the change of epigenetic components.Moreover, children′s lives and health are often threatened by a lack of effective drugs and complex cardiovascular malformations.This article reviews advances in molecule genetics of Tatton-Brown-Rahman syndrome, Kabuki syndrome, Rubinstein-Taybi syndrome, CHARGE syndrome and Sifrim-Hitz-Weiss syndrome, and mainly elaborates the mechanism of cardiovascular malformations caused by mutations in corresponding epigenetic modification genes, providing more comprehensive reference for clinical diagnosis and management.
