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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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
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author Guo, Wanru
Feng, Xuewen
Hu, Ming
Shangguan, Yanwan
Xia, Jiafeng
Hu, Wenjuan
Li, Xiaomeng
Zhang, Zunjing
Shi, Yunzhen
Xu, Kaijin
author_facet Guo, Wanru
Feng, Xuewen
Hu, Ming
Shangguan, Yanwan
Xia, Jiafeng
Hu, Wenjuan
Li, Xiaomeng
Zhang, Zunjing
Shi, Yunzhen
Xu, Kaijin
author_sort Guo, Wanru
collection PubMed
description 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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spelling pubmed-87901532022-01-27 The Application of Whole−Exome Sequencing in Patients With FUO Guo, Wanru Feng, Xuewen Hu, Ming Shangguan, Yanwan Xia, Jiafeng Hu, Wenjuan Li, Xiaomeng Zhang, Zunjing Shi, Yunzhen Xu, Kaijin Front Cell Infect Microbiol Cellular and Infection Microbiology 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. Frontiers Media S.A. 2022-01-12 /pmc/articles/PMC8790153/ /pubmed/35096640 http://dx.doi.org/10.3389/fcimb.2021.783568 Text en Copyright © 2022 Guo, Feng, Hu, Shangguan, Xia, Hu, Li, Zhang, Shi and Xu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cellular and Infection Microbiology
Guo, Wanru
Feng, Xuewen
Hu, Ming
Shangguan, Yanwan
Xia, Jiafeng
Hu, Wenjuan
Li, Xiaomeng
Zhang, Zunjing
Shi, Yunzhen
Xu, Kaijin
The Application of Whole−Exome Sequencing in Patients With FUO
title The Application of Whole−Exome Sequencing in Patients With FUO
title_full The Application of Whole−Exome Sequencing in Patients With FUO
title_fullStr The Application of Whole−Exome Sequencing in Patients With FUO
title_full_unstemmed The Application of Whole−Exome Sequencing in Patients With FUO
title_short The Application of Whole−Exome Sequencing in Patients With FUO
title_sort application of whole−exome sequencing in patients with fuo
topic Cellular and Infection Microbiology
url 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
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