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Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.

Authors: Yu, Rong  Liu, Lv  Chen, Chan  Shen, Jin-Mei 
Citation: Yu R, etal., Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.
Pubmed: (View Article at PubMed) PMID:28171858
DOI: Full-text: DOI:10.1159/000455181

OBJECTIVES: Dilated cardiomyopathy (DCM) is a common disease in the clinic, and it is the leading cause of heart failure and sudden cardiac death. Previous studies have proven that genetic factors play a crucial role in the occurrence of DCM; more than 50 disease genes including desmin (DES) have been identified to be associated with DCM. At present, most DES mutations are reported in desmin-related myofibrilla myopathy patients, but variants leading to isolated DCM are rarely reported.
METHODS: We applied whole-exome sequencing and cardiomyopathy-related gene filtering strategies to discover the genetic factors in a Chinese DCM family.
RESULTS: A novel mutation (c.679 C>T /p.R227C) in exon 3 of DES was identified and cosegregated with the affected members of a Chinese family with isolated DCM phenotypes (left ventricle and left atrial diameters).
CONCLUSION: This mutation leads to a substitution of arginine by cysteine and it is predicted to be deleterious by bioinformatics programs. Our study not only contributes to the genetic diagnosis and counseling of families with DCM, but it also further proves that DES mutations may lead to isolated DCM and provides a new case for the study of the relationship between DES mutations and DCM.


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CRRD Object Information
CRRD ID: 13592594
Created: 2018-05-09
Species: All species
Last Modified: 2018-05-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.