AUTHOR=Liu Yu-Xing , Yu Rong , Sheng Yue , Fan Liang-Liang , Deng Yao 

TITLE=Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 9 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2022.971501

DOI=10.3389/fcvm.2022.971501

ISSN=2297-055X

ABSTRACT=Background: Desmin is a kind of important intermediate filament protein and participates in the mechanical stabilization of the sarcomeres and cell contacts within the cardiac intercalated disk. Mutations in DES gene can contribute to cardiomyopathy with heterogeneous phenotypes. While the detailed molecule mechanisms involved requires further investigation.
Method: We described a Chinese family with cardiomyopathy and sudden cardiac death (SCD). Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic lesion of this family.
Results: An unknown heterozygote missense variant (c.1300G>A;p.E434K) of DES gene was identified. The mutation was co-segregation in this family and was absent in the healthy control samples. The mutation was predicted as pathogenic and was absent in our 200 healthy controls.
Conclusion: In total, we employed WES to explore the genetic lesion of a Chinese family with cardiomyopathy and SCD. A novel mutation in DES gene was detected. Our study not only provided data for genetic counseling and clinical diagnosis to this family, but also broadened the spectrum of DES mutations.