Molecular and Genetic Medicine

The Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, United States

Publications

• Research Article   
  The trans KCNMA1-M744T and cis ANXA11-I457V and DYDC2-P123R Variants are Associated with Familial Dilated Cardiomyopathy
  Author(s): Purevjav E*, Zhang W, Mendsaikhan U, Gong N, Martherus R, Sadek B, Munkhsaikhan U, Xu F, Lu L and Towbin JA
  
  Objectives: Cardiomyopathies are diseases of heart muscle caused by mutations in cytoskeletal genes. Disease severity and penetrance vary greatly among patients carrying the same mutation(s) and single-gene variants often do not reliably predict cardiomyopathy phenotypes. Background: The chromosome 10q21-q23 locus was previously associated to familial dilated cardiomyopathy (DCM), arrhythmias, heart failure, Wolff-Parkinson-White (WPW) syndrome, mitral valve prolapse (MVP) and/or mitral regurgitation (MR). However, the exact variants responsible for heterogeneous DCM and arrhythmia phenotypes remained unknown. Methods: A large family of 62 members was re-studied using whole exome and direct sequencing. Phenotype- genotype correlation and systems genetics analysis were performed. Results: We ide.. Read More»
  

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