Open AccessA novel WT1 gene mutation in a chinese girl with denys‐drash syndrome
Author(s) -
Wang Faliang,
Cai Jiabin,
Wang Jinhu,
He Min,
Mao Junqing,
Zhu Kun,
Zhao Manli,
Guan Zhonghai,
Li Linjie,
Jin Hongchuan,
Shu Qiang
Publication year - 2021
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23769
Subject(s) - missense mutation , mutation , wilms' tumor , genetics , in silico , biology , gene , nephrotic syndrome , cancer research , endocrinology
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.