Whole-exome sequencing identifies a novel CPT2 mutation in a pedigree with gout

Gout is a common inflammatory arthritis, and its exact pathogenesis remains unclear. Multiple studies have demonstrated that genetic factors play important roles in the development of gout. This study aims to investigate the genetic basis of gout in a three generation pedigree of affected individuals. Whole exome sequencing, comprehensive variant analyses and cosegregation testing were performed. The effects of candidate variants on protein localization and cellular expression were analyzed, as were interactions with gout related genes.