Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy

Abstract

Background: Dilated cardiomyopathy (DCM) is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction. The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis, which can be very poor.

Aim: To identify pathogenic genes in DCM through pedigree analysis.

Methods: Our research team identified a patient with DCM in the clinic. Through investigation, we found that the family of this patient has a typical DCM pedigree. High-throughput sequencing technology, next-generation sequencing, was used to sequence the whole exomes of seven samples in the pedigree.

Results: A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered. The mutation was completely consistent with the clinical information for this DCM pedigree. Sanger sequencing was used to further verify the locus of the mutation in pedigree samples. These results were consistent with those of high-throughput sequencing.

Conclusions: ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.

Keywords: ANK2p.F3067L; Dilated cardiomyopathy; Gene mutation; Potentially pathogenic gene; Sanger sequencing; Whole exomes sequencing.