The Application of Whole-Exome Sequencing in Patients With FUO
Copyright © 2022 Guo, Feng, Hu, Shangguan, Xia, Hu, Li, Zhang, Shi and Xu..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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| Enthalten in: |
Frontiers in cellular and infection microbiology - 11(2021) vom: 17., Seite 783568 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Guo, Wanru [VerfasserIn] |
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| Links: |
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| Themen: |
Fever of unknown origin |
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| Anmerkungen: |
Date Completed 05.04.2022 Date Revised 07.12.2022 published: Electronic-eCollection Citation Status MEDLINE |
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| doi: |
10.3389/fcimb.2021.783568 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM336309015 |
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| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022 Guo, Feng, Hu, Shangguan, Xia, Hu, Li, Zhang, Shi and Xu. | ||
| 520 | |a 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 | ||
| 520 | |a METHODS: We performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system | ||
| 520 | |a 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 | ||
| 520 | |a CONCLUSIONS: Our results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a fever of unknown origin | |
| 650 | 4 | |a gene mutation | |
| 650 | 4 | |a genetic diagnosis | |
| 650 | 4 | |a next-generation sequencing | |
| 650 | 4 | |a whole exome sequencing | |
| 700 | 1 | |a Feng, Xuewen |e verfasserin |4 aut | |
| 700 | 1 | |a Hu, Ming |e verfasserin |4 aut | |
| 700 | 1 | |a Shangguan, Yanwan |e verfasserin |4 aut | |
| 700 | 1 | |a Xia, Jiafeng |e verfasserin |4 aut | |
| 700 | 1 | |a Hu, Wenjuan |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Xiaomeng |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Zunjing |e verfasserin |4 aut | |
| 700 | 1 | |a Shi, Yunzhen |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Kaijin |e verfasserin |4 aut | |
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