Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.
Valentina FerradiniLuca ParcaAnnamaria MartinoChiara LanzilloElisa SilvettiLeonardo CalòStefano CaselliGiuseppe NovelliManuela Helmer-CitterichFederica Carla SangiuoloRuggiero MangoPublished in: Genes (2021)
Our results reveal two variants in sarcomeric genes to be the molecular cause of ACM, further increasing the genetic heterogeneity of the disease; in fact, sarcomeric variants are usually associated with HCM phenotype. Studies on the role of sarcomere genes in the pathogenesis of ACM are surely recommended in those ACM patients negative for desmosomal mutation screening.
Keyphrases
- copy number
- genome wide
- hypertrophic cardiomyopathy
- end stage renal disease
- dna methylation
- genome wide identification
- ejection fraction
- newly diagnosed
- single cell
- chronic kidney disease
- heart failure
- peritoneal dialysis
- genome wide analysis
- patient reported outcomes
- gene expression
- transcription factor
- atrial fibrillation
- single molecule
- case control