NDLI: Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1

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Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1

Content Provider	Springer Nature Link
Author	Rahman, N. Abidi, Fatima Ford, Deborah Arbour, Laura Rapley, Elizabeth Tonin, Patricia Barton, David Batcup, Gillian Berry, J. Cotter, Finbarr Davison, Val Gerrard, Mary Gray, Elizabeth Grundy, Richard Hanafy, Magdi King, Derek Lewis, Ian Ridolfi Luethy, Annette Madlensky, Lisa Mann, Jill O’Meara, Anne Oakhill, Tony Skolnick, Mark Strong, Louise Variend, Dick Narod, Steven Schwartz, Charles Pritchard Jones, Kathryn Stratton, Michael R.
Copyright Year	1998
Abstract	A susceptibility gene for Wilms’ tumour (WT), designated FWT1, was previously mapped to chromosome 17q12–q21 by linkage analysis of a single family. We now confirm the existence of this gene by analysis of additional cases in the original family (3-point LOD score=5.69), and by detecting strong evidence of linkage to this region in an unrelated pedigree with seven cases of WT (3-point LOD score=2.56). Analysis of 11 smaller WT families confirms that there is genetic heterogeneity in familial WT, as three families exhibit strong evidence against linkage to FWT1. One of these was subsequently found to have a predisposing WT1 mutation. However, the other two families show evidence against both FWT1 and WT1, suggesting that at least one further familial WT gene exists. Analysis of the phenotype of 16 WT cases from the families linked to FWT1 demonstrates that they present at a significantly older age and a significantly later stage than both sporadic WT and the six cases from two families unlinked to either FWT1 or WT1. The results confirm the role of FWT1 in susceptibility to WT, provide strong evidence for genetic heterogeneity in familial WT and suggest there are phenotypic differences between familial WT due to FWT1, familial WT due to other genes and non-familial WT.
Starting Page	547
Ending Page	556
Page Count	10
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	103
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1998-11-26
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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