|
Basic Characteristics of Mutations
|
|
Mutation Site
|
V823A |
|
Mutation Site Sentence
|
RESULTS: Two drug resistance mutations (UL54 V823A and UL97 A594V) were found in one patient. |
|
Mutation Level
|
Amino acid level |
|
Mutation Type
|
Nonsynonymous substitution |
|
Gene/Protein/Region
|
UL54 |
|
Standardized Encoding Gene
|
UL54
|
|
Genotype/Subtype
|
- |
|
Viral Reference
|
NC_006273.2
|
|
Functional Impact and Mechanisms
|
|
Disease
|
Cytomegalovirus infections
|
|
Immune
|
- |
|
Target Gene
|
-
|
|
Clinical and Epidemiological Correlations
|
|
Clinical Information
|
Y |
|
Treatment
|
GCV;VGCV |
|
Location
|
- |
|
Literature Information
|
|
PMID
|
35733089
|
|
Title
|
Detection of antiviral drug resistance in patients with congenital cytomegalovirus infection using long-read sequencing: a retrospective observational study
|
|
Author
|
Torii Y,Horiba K,Kawada JI,Haruta K,Yamaguchi M,Suzuki T,Uryu H,Kashiwa N,Goishi K,Ogi T,Ito Y
|
|
Journal
|
BMC infectious diseases
|
|
Journal Info
|
2022 Jun 22;22(1):568
|
|
Abstract
|
BACKGROUND: Congenital human cytomegalovirus (cCMV) infection can cause sensorineural hearing loss and neurodevelopmental disabilities in children. Ganciclovir and valganciclovir (GCV/VGCV) improve long-term audiologic and neurodevelopmental outcomes for patients with cCMV infection; however, antiviral drug resistance has been documented in some cases. Long-read sequencing can be used for the detection of drug resistance mutations. The objective of this study was to develop full-length analysis of UL97 and UL54, target genes with mutations that confer GCV/VGCV resistance using long-read sequencing, and investigate drug resistance mutation in patients with cCMV infection. METHODS: Drug resistance mutation analysis was retrospectively performed in 11 patients with cCMV infection treated with GCV/VGCV. UL97 and UL54 genes were amplified using blood DNA. The amplicons were sequenced using a long-read sequencer and aligned with the reference gene. Single nucleotide variants were detected and replaced with the reference sequence. The replaced sequence was submitted to a mutation resistance analyzer, which is an open platform for drug resistance mutations. RESULTS: Two drug resistance mutations (UL54 V823A and UL97 A594V) were found in one patient. Both mutations emerged after 6 months of therapy, where viral load increased. Mutation rates subsided after cessation of GCV/VGCV treatment. CONCLUSIONS: Antiviral drug resistance can emerge in patients with cCMV receiving long-term therapy. Full-length analysis of UL97 and UL54 via long-read sequencing enabled the rapid and comprehensive detection of drug resistance mutations.
|
|
Sequence Data
|
-
|