Software and database for the analysis of mutations in the human WT1 gene
Open Access
- 1 January 1998
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 26 (1) , 271-274
- https://doi.org/10.1093/nar/26.1.271
Abstract
The WT1 gene, located at 11p13, encodes a zinc finger transcription factor involved in renal and gonadal development and in Wilms' tumor. Constitutional mutations of this gene have been described in most patients with Denys Drash syndrome (mesangial sclerosis associated with male pseudohermaphrodism and/or Wilms' tumor), but also in patients with genitourinary abnormalities and Wilms' tumor (WT) or presenting with only unilateral or bilateral WT. Moreover, ∼10% of Wilms' tumors carry WT1 mutations at the somatic level. To facilitate the genotype-phenotype correlation analyses, we have created a software package along with a computerized database of germline (70 entries) and somatic (28 entries) mutations reported in the literature.Keywords
This publication has 51 references indexed in Scilit:
- Constitutional and somatic mutations in the WTI gene in wilms' tumor patientsInternational Journal of Cancer, 1995
- Diaphragmatic hernia in Denys‐Drash syndromeAmerican Journal of Medical Genetics, 1995
- DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutationsHuman Molecular Genetics, 1995
- A novel zinc finger mutation in a patient with Denys—Drash syndromeHuman Molecular Genetics, 1993
- Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashionHuman Molecular Genetics, 1993
- A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys‐Drash syndromeFEBS Letters, 1993
- A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys— Drash syndromeHuman Molecular Genetics, 1993
- Constitutional mutations in the WT1 gene in patients with Denys-Drash syndromeHuman Molecular Genetics, 1992
- Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital developmentNature Genetics, 1992
- Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndromeCell, 1991