Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2412
Peer-review started: November 12, 2022
First decision: February 14, 2023
Revised: February 22, 2023
Accepted: March 15, 2023
Article in press: March 15, 2023
Published online: April 16, 2023
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.
To identify pathogenic genes in DCM through pedigree analysis.
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.
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.
ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
Core Tip: Our research team identified a typical dilated cardiomyopathy (DCM) pedigree clinically. High-throughput sequencing technology, namely second-generation sequencing, is used to sequence the entire exon group of seven samples in the pedigree. A new potential pathogenic gene mutation ANK2p.F3067L was found in DCM.