Unknown

Dataset Information

0

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 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.

Conclusions

The uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene may be a crucial marker in DDS.

SUBMITTER: Wang F 

PROVIDER: S-EPMC8128316 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC5516385 | biostudies-literature
| S-EPMC8133155 | biostudies-literature
| S-EPMC7775732 | biostudies-literature
| S-EPMC8388055 | biostudies-literature
| S-EPMC5137435 | biostudies-literature
| S-EPMC5934627 | biostudies-literature
| S-EPMC6885669 | biostudies-literature
2009-10-02 | GSE18358 | GEO
| S-EPMC4114052 | biostudies-literature
2009-10-09 | E-GEOD-18358 | biostudies-arrayexpress