A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.
46
Denys-Drash syndrome (DDS)
Wilms tumor
Wilms tumor-1 (WT1)
XY karyotype
nephrotic syndrome
Journal
Journal of clinical laboratory analysis
ISSN: 1098-2825
Titre abrégé: J Clin Lab Anal
Pays: United States
ID NLM: 8801384
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
revised:
03
03
2021
received:
10
11
2020
accepted:
13
03
2021
pubmed:
5
5
2021
medline:
24
11
2021
entrez:
4
5
2021
Statut:
ppublish
Résumé
Denys-Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision-making. We present a patient with an XY karyotype and female appearance, nephropathy, and Wilms tumor in the right kidney. Genomic DNA was extracted from peripheral blood cells according to standard protocols. "Next-generation" sequencing (NGS) was performed to identify novel variants. The variant was analyzed with Mutation Taster, and its function was explored by a cell growth inhibition assay. We found the first case of Denys-Drash syndrome with the uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene. In silico analysis, the variant was predicted "disease-causing" by Mutation Taster. The mutated variant showed a weaker effect in inhibiting tumor cells than wild-type WT1. The uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene may be a crucial marker in DDS.
Identifiants
pubmed: 33942367
doi: 10.1002/jcla.23769
pmc: PMC8128316
doi:
Substances chimiques
WT1 Proteins
0
WT1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e23769Subventions
Organisme : National Natural Foundation of China
ID : 81801939
Organisme : Health Commission of Zhejiang Province
ID : 2019KY093
Informations de copyright
© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.
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