The Application of Whole−Exome Sequencing in Patients With FUO

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 individu...

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Detalles Bibliográficos
Autores principales: Guo, Wanru, Feng, Xuewen, Hu, Ming, Shangguan, Yanwan, Xia, Jiafeng, Hu, Wenjuan, Li, Xiaomeng, Zhang, Zunjing, Shi, Yunzhen, Xu, Kaijin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cellular and Infection Microbiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790153/
https://www.ncbi.nlm.nih.gov/pubmed/35096640
http://dx.doi.org/10.3389/fcimb.2021.783568
Descripción
Sumario: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.

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