Homozygous Missense N629D hERG (KCNH2) Potassium Channel Mutation Causes Developmental Defects in the Right Ventricle and Its Outflow Tract and Embryonic Lethality.

The article focuses on the role homozygous missense N629D human ERG (KNCH2) potassium channel mutation in embryo cardiac development. Altered looping architecture, poorly developed bulbus cordis, and distorted sac and branchial arc are some of the developmental defects because of the mutation. Results show that defects in cardiac ontogeny in the first branchial arch, outflow tract, and the right ventricle are caused by the loss of I_Kr function in N629D/N629D cardiovascular system.