RGD Reference Report - Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family. - Rat Genome Database

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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.
RGD ID: 13592594
Pubmed: PMID:28171858   (View Abstract at PubMed)
DOI: DOI:10.1159/000455181   (Journal Full-text)


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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DESHumandilated cardiomyopathy  IAGP DNA:mutation:cds:c.679C>T(p.R227C)(human)RGD 
DesRatdilated cardiomyopathy  ISODES (Homo sapiens)DNA:mutation:cds:c.679C>T(p.R227C)(human)RGD 
DesMousedilated cardiomyopathy  ISODES (Homo sapiens)DNA:mutation:cds:c.679C>T(p.R227C)(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Des  (desmin)

Genes (Mus musculus)
Des  (desmin)

Genes (Homo sapiens)
DES  (desmin)


Additional Information