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© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20–50% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide knowledge about the pathogenesis of the disease for diagnosis, treatment, prevention, and genetic counseling for families. Methods: This study collected nine patients from different Vietnamese families for genetic analysis at The Cardiovascular Center, E Hospital, Hanoi, Vietnam. The patients were diagnosed with cardiomyopathy based on clinical symptoms. Whole-exome sequencing (WES) was performed in the Vietnamese patients to identify variants associated with cardiomyopathy, and the Sanger sequencing method was used to validate the variants in the patients’ families. The influence of the variants was predicted using in silico analysis tools. Results: Nine heterozygous variants were detected as a cause of disease in the patients, three of which were novel variants, including c.284C>G, p.Pro95Arg in the MYL2 gene, c.2356A>G, p.Thr786Ala in the MYH7 gene, and c.1223T>A, p.Leu408Gln in the DES gene. Two other variants were pathogenic variants (c.602T>C, p.Ile201Thr in the MYH7 gene and c.1391G>C, p.Gly464Ala in the PTPN11 gene), and four were variants of uncertain significance in the ACTA2, ANK2, MYOZ2, and PRKAG2 genes. The results of the in silico prediction software showed that the identified variants were pathogenic and responsible for the patients’ DCM. Conclusions: Our results contribute to the understanding of cardiomyopathy pathogenesis and provide a basis for diagnosis, treatment, prevention, and genetic counseling.

Details

Title
Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy
Author
Dac Dai Tran 1 ; Nguyen Thi Kim Lien 2 ; Nguyen Van Tung 3   VIAFID ORCID Logo  ; Nguyen, Cong Huu 1 ; Phan Thao Nguyen 1 ; Do Anh Tien 1 ; Doan Thi Hoai Thu 1 ; Bui, Quang Huy 1 ; Tran Thi Kim Oanh 1 ; Nguyen Thi Phuong Lien 1 ; Nguyen Thanh Hien 2 ; Nguyen Ngoc Lan 4 ; Le Tat Thanh 2 ; Nguyen, Minh Duc 5 ; Nguyen, Huy Hoang 3   VIAFID ORCID Logo 

 E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam; [email protected] (D.D.T.); [email protected] (N.C.H.); [email protected] (P.T.N.); [email protected] (D.A.T.); [email protected] (D.T.H.T.); [email protected] (B.Q.H.); [email protected] (T.T.K.O.); [email protected] (N.T.P.L.) 
 Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam; [email protected] (N.T.K.L.); [email protected] (N.V.T.); [email protected] (N.T.H.); [email protected] (N.N.L.); [email protected] (L.T.T.); [email protected] (N.M.D.) 
 Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam; [email protected] (N.T.K.L.); [email protected] (N.V.T.); [email protected] (N.T.H.); [email protected] (N.N.L.); [email protected] (L.T.T.); [email protected] (N.M.D.); Faculty of Biotechnology, Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Cau Giay, Hanoi 100000, Vietnam 
 Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam; [email protected] (N.T.K.L.); [email protected] (N.V.T.); [email protected] (N.T.H.); [email protected] (N.N.L.); [email protected] (L.T.T.); [email protected] (N.M.D.); Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Str., Dong Da, Hanoi 100000, Vietnam 
 Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam; [email protected] (N.T.K.L.); [email protected] (N.V.T.); [email protected] (N.T.H.); [email protected] (N.N.L.); [email protected] (L.T.T.); [email protected] (N.M.D.); National Research Center for Medicinal Plant Germplasm & Breeding, National Institute of Medicinal Materials, Thanh Tri, Hanoi 100000, Vietnam 
First page
2709
Publication year
2024
Publication date
2024
Publisher
MDPI AG
e-ISSN
20754418
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3144058303
Copyright
© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.