Research progress on phenotype and mechanism of cardiac disease caused by CACNA1C gene mutations / 中华实用儿科临床杂志

ABSTRACT

Mutations in the CACNA1 C gene which encodes the α1 C subunit of voltage dependent Ⅰ-type Ca2 + channel can cause mental and cardiovascular diseases.It is the pathogenic gene of Timothy syndrome.Its cardiovascular-system phenotype mainly includes long QT syndrome,Brugada syndrome,short QT syndrome,etc.In recent years,it has been found that CACNA1C gene mutations can also lead to non-syndromic phenotypes,including congenital heart disease,cardiomyopathy,etc,further enriching the clinical phenotype of CACNA1C gene mutation.Now,the recent advances in heart disease phenotypes and mechanisms involved in CACNA1C gene mutations are reviewed.