Genetic basis of relapsing polychondritis revealed by family‐based whole‐exome sequencing

Aim Genetic factors are believed to be implicated in the pathogenesis of relapsing polychondritis (RP). However, the molecular genetic determinants remain to be elucidated. This study aimed to detect the susceptibility genes of RP with whole‐exome sequencing (WES) in a Chinese family and deepen our understanding of the pathogenesis of RP thereafter. Method A 32‐year‐old Chinese female proband with RP and her family including her mother with RP were enrolled in the study. The genomic DNA of 6 human subjects was extracted from peripheral blood and then gene allele mutations were identified using WES. Candidate variants with low frequency (