Retrospective Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2023; 11(11): 2412-2422
Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2412
Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
Xin-Ru Zhang, Hang Ren, Fang Yao, Yang Liu, Chun-Li Song
Xin-Ru Zhang, Department of Pharmacy, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China
Hang Ren, Fang Yao, Yang Liu, Chun-Li Song, Department of Cardiovascular Medicine, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China
Author contributions: Zhang XR contributed to the concept, definition of intellectual content, literature search, clinical studies, statistical analysis, manuscript preparation and review; Song CL contributed to the design and manuscript editing; Liu Y contributed to the experimental studies; Yao F contributed to the data acquisition; Ren H contributed to the data analysis.
Supported by the Jilin Provincial Healthcare Talent Special Program, No. 2019SCZT08.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of The Second Hospital of Jilin University.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun-Li Song, MD, Chief Physician, Professor, Department of Cardiovascular Medicine, The Second Hospital of Jilin University, Ziqiang Street, Nanguan District, Changchun 130000, Jilin Province, China. songchunl@jlu.edu.cn
Received: November 12, 2022
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
Processing time: 145 Days and 3 Hours
Core Tip

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.