Zhang XR, Ren H, Yao F, Liu Y, Song CL. Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy . World J Clin Cases 2023; 11(11): 2412-2422 [PMID: 37123301 DOI: 10.12998/wjcc.v11.i11.2412]
Corresponding Author of This Article
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
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Retrospective Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 bythe 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
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.
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.
