The Application of Whole−Exome Sequencing in Patients With FUO

Abstract

BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis. In this study, we investigated the application of WES in individuals with FUO.MethodsWe performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system.ResultsIn 7/15 samples, we found positive results, including potentially causative mutations across eight different genes: CFTR, CD209, IRF2BP2, ADGRV 1, TYK2, MEFV, THBD and GATA2.ConclusionsOur results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO.