Supplementary Material for: Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family
Yu R.
Liu L.
Chen C.
Shen J.-M.
10.6084/m9.figshare.4626133.v1
https://karger.figshare.com/articles/journal_contribution/Supplementary_Material_for_Exome_Sequencing_Identifies_a_Novel_DES_Mutation_R227C_in_a_Chinese_Dilated_Cardiomyopathy_Family/4626133
<p><b><i>Objectives:</i></b> 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 <i>desmin </i>(<i>DES</i>) have been identified to be associated with DCM. At present, most<i> DES </i>mutations
are reported in desmin-related myofibrilla myopathy patients, but
variants leading to isolated DCM are rarely reported. <b><i>Methods:</i></b>
We applied whole-exome sequencing and cardiomyopathy-related gene
filtering strategies to discover the genetic factors in a Chinese DCM
family. <b><i>Results:</i></b> A novel mutation (c.679 C>T /p.R227C) in exon 3 of<i> DES</i>
was identified and cosegregated with the affected members of a Chinese
family with isolated DCM phenotypes (left ventricle and left atrial
diameters). <b><i>Conclusion:</i></b> 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 <i>DES </i>mutations may lead to isolated DCM and provides a new case for the study of the relationship between <i>DES</i> mutations and DCM.</p>
2017-02-07 14:02:27
Dilated cardiomyopathy
DES
Mutation
Whole-exome sequencing