Exome Sequencing to Identify Novel Genes in Hypertension

K. Musunuru
2012 Circulation: Cardiovascular Genetics  
Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012;482:98 -102. Study Hypothesis Previous genetic studies of patients with Mendelian forms of hypertension have identified causal genes involving renal electrolyte transport, highlighting new mechanisms for the regulation of blood pressure in humans. Pseudohypoaldosteronism type II (PHAII), a rare genetic disorder causing hypertension, hyperkalemia, and metabolic acidosis, has been
more » ... , in some cases, to be caused by mutations in WNK1 or WNK4, but most cases remained unexplained at the time of the study. The authors proposed that exome sequencing and gene resequencing of a number of unrelated individuals with PHAII would uncover novel causal genes.
doi:10.1161/circgenetics.112.963256 pmid:22511709 fatcat:nt4efgyturatlbyuqp747zgdne