Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout.

ABSTRACT: Background: 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. Methods: Whole-exome sequencing (WES), comprehensive variant analyses, and co-segregation testing were performed. The effects of candidate variants on protein localization and cellular expression were analyzed, as were interactions with gout-related genes. Results: After comprehensive bioinformatic analysis, Sanger sequencing validation, and pedigree co-segregation analysis, we identified a rare heterozygous missense variant (c.1891C > T, p.R631C) in CPT2</

SUBMITTER: Guo Y 

PROVIDER: S-EPMC8967419 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature