Abstract
The inherited heart diseases related genes are involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting the pathogenic mutations in inherited heart disease patients in the present study. Five literature-annotated disease mutations (PKP2 gene, c.148_151delACAG, NM_001005242;ABCC9 gene, c.3589C>T, NM_005691; PKP2 gene, c.1237C>T, NM_001005242; PKP2 gene, c.2490-6T>C, NM_001005242; TNNT2 gene, c.650_652delAGA, NM_000364) and one novel mutation (FBN1 gene, c.8286_8289delCATC, NM_000138) were found in our patients. Two main methods, the NGS and the classic Sanger sequencing, were used in this study. The whole-exome sequencing (WES) was specifically used in our study. Combined applications of the NGS platform and bioinformatics are proved to be effective methods for inherited heart disease diagnosis.
Key words: Inherited heart disease; next-generation sequencing; whole-exome sequencing