A clinical overview of WT1 gene mutations

Little, M. and Wells, C. (1997) A clinical overview of WT1 gene mutations. Human Mutation, 9 3: 209-225. doi:10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2

Author Little, M.
Wells, C.
Title A clinical overview of WT1 gene mutations
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 1997
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2
Volume 9
Issue 3
Start page 209
End page 225
Total pages 17
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Abstract Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer, Wilms' tumour (WT). Six years on, we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations, >90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. WT1 mutations have also been reported in juvenile granulosa cell tumour, non-asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia.
Keyword Wilms' tumour
WAGR syndrome
Tumour suppressor
Denys-Drash syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: Australian Institute for Bioengineering and Nanotechnology Publications
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Created: Wed, 09 Mar 2011, 14:33:42 EST