A potential pathogenic mutation of LAMA4 in a Chinese family with dilated cardiomyopathy and conduction system disease.

ABSTRACT: Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and poor systolic function. Approximately half of idiopathic DCM cases are assigned to genetic causes in familial or apparently sporadic cases, and more than 50 genes are reported to cause DCM. However, genetic basis of most DCM patients still keeps unknown and require further study. Clinical data, family histories, and blood samples were collected from the proband and family members in a Chinese family presenting with DCM and conduction system disease. A genetic analysis was performed using next generation sequencing (NGS). Bioinformatic analysis was performed to predict the pathogenic consequence of gene mutation. A missense heterozygous mutation c.652G > A (p.G218R) in Laminin Subunit Alpha-4 (LAMA4) gene was identifi

SUBMITTER: Wang H 

PROVIDER: S-EPMC11651427 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature