A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.

ABSTRACT:

Objective

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.

Methods

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.

Results

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 si

SUBMITTER: Wang F 

PROVIDER: S-EPMC8128316 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature