The Application of Whole-Exome Sequencing in Patients With FUO

The Application of Whole-Exome Sequencing in Patients With FUO

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...

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Veröffentlicht in:Frontiers in cellular and infection microbiology 2022-01, Vol.11, p.783568-783568
Hauptverfasser: Guo, Wanru, Feng, Xuewen, Hu, Ming, Shangguan, Yanwan, Xia, Jiafeng, Hu, Wenjuan, Li, Xiaomeng, Zhang, Zunjing, Shi, Yunzhen, Xu, Kaijin
Format: Artikel
Sprache:eng
Schlagworte:
Cellular and Infection Microbiology
Exome
fever of unknown origin
Fever of Unknown Origin - genetics
gene mutation
genetic diagnosis
High-Throughput Nucleotide Sequencing - methods
Humans
Mutation
next-generation sequencing
Pyrin - genetics
whole exome sequencing
Whole Exome Sequencing - methods
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Zusammenfassung: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. We performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system. In 7/15 samples, we found positive results, including potentially causative mutations across eight different genes: , , , , , and . Our results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO.
ISSN:2235-2988
2235-2988
DOI:10.3389/fcimb.2021.783568