The Application of Whole-Exome Sequencing in Patients With FUO

Abstract

Background: Fever 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.

Methods: We performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system.

Results: In 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.

Conclusions: Our results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO.

Keywords: fever of unknown origin; gene mutation; genetic diagnosis; next-generation sequencing; whole exome sequencing.