Analysis of gene mutation in children with cardiomyopathy / 实用医学杂志

ABSTRACT

Objective To study the well-related cardiomyopathy genes in children with cadiomyopathy living in south china.Methods 43 childrens with cardiomyopathy admitted to Guangdong General Hospital between January 2015 to March 2017 were enrolled in this study.A standardized protocol for ultra-high coverage nextgeneration sequencing of the well-related cardiomyopathy genes were performed in all patients.A sequencing of Sanger were used to their immediate family members.Results A total of 28 mutations of pathogenic and suspected pathogenic in 23 genes were identified in 21 patients (48.8％).All of the mutations occurred only once.Conclusions Most cases with cardiomyopathy have gene mutations.The sequencing of the well-related cardiomyopathy genes can assist the clinical diagnosis.And many variants which the test detected need to be followed-up in order to gain benefit for the patients and their families.