1. Identification of genetic variants associated with phenotype in children with functional single ventricle
Main Article Content
Abstract
Functional single ventricle heart disease is a complex form of CHD that includes multiple defects with a relatively high degree of heritability and risk of recurrence in siblings. The multifactorial etiology of congenital heart disease poses a challenge in clearly identifying specific causative factors and planning effective treatment interventions. WES sequencing is increasingly being applied in research to identify gene variants associated with genetic diseases, especially those with complex genetic mechanisms such as functional single ventricle heart disease. In this study, we used WES sequencing to identify genetic variations in relevant genes in 23 patients with FSV. A total 55 variants in 28 genes related to CHD (including 16 genes related to severe malformations including BMP4, COL11A1, ELN, EOGT, HSPG2, KMT2D, LRP2, MYBPC3, MYH6, MYH7, NFATC1, NIPBL, NOTCH1, SEMA3C, TBX2, USH2A) were identified and evaluated by software to predict the impact of the variants, and contribute useful information to the general understanding of the causes of the disease and provide a scientific basis for clinicians in the diagnosis, treatment and genetic counseling of patients and their families.
Article Details
Keywords
Congenital heart disease (CHD), Functional single ventricle (FSV), variant, Whole exome sequencing (WES), Vietnamese children
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