Abnormal WT1 expression in human fetuses with bilateral renal agenesis and cardiac malformations

Loo, Christine K.C., Pereira, Tamara N. and Ramm, Grant A. (2012) Abnormal WT1 expression in human fetuses with bilateral renal agenesis and cardiac malformations. Birth Defects Research Part A-Clinical and Molecular Teratology, 94 2: 116-122.


Author Loo, Christine K.C.
Pereira, Tamara N.
Ramm, Grant A.
Total Author Count Override 3
Title Abnormal WT1 expression in human fetuses with bilateral renal agenesis and cardiac malformations
Journal name Birth Defects Research Part A-Clinical and Molecular Teratology   Check publisher's open access policy
ISSN 1542-0752
1542-0760
Publication date 2012-02
Sub-type Article (original research)
DOI 10.1002/bdra.22881
Volume 94
Issue 2
Start page 116
End page 122
Total pages 7
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Collection year 2013
Language eng
Formatted abstract Background:
Bilateral renal agenesis has multiple etiologies. Animal models have provided useful information on possible causes of this condition, but its etiology in humans is less clear. We recently described autopsy findings of two human fetuses with bilateral renal agenesis and abnormal expression of WT1 (Wilms tumor 1) in liver mesothelium.

Methods:
We have identified 14 additional fetuses with bilateral renal agenesis from autopsies performed in our institution over the past 10 years and subjected archival liver biopsy specimens from these cases to immunohistochemistry for WT1, as well as α-smooth muscle actin (α-SMA) and desmin to assess liver mesenchymal abnormalities.

Results:

Six of seven fetuses with combined bilateral renal agenesis and cardiac anomalies showed abnormalities of WT1 expression in liver mesothelial cells, which was not seen in other fetuses with bilateral renal agenesis. Except in one case, the fetuses with renal agenesis and cardiac defects also showed liver mesenchymal anomalies (assessed by increased α-SMA expression), which was not present in other renal agenesis fetuses.

Conclusions:
WT1 is widely expressed in mesothelial cells during development, and we hypothesized that some of the defects are caused by abnormal function of mesenchyme derived from mesothelial cells, similar to the mesothelium-derived defects proposed in animal models. The methods we used are available to many laboratories and can be applied to archival paraffin tissue blocks. We suggest that future similar studies could help to expand the understanding of renal agenesis in humans and could help to subclassify this condition. This would be useful in patient management and counseling.
Keyword Wt1
Bilateral renal agenesis
Human fetuses
Liver mesenchymal cell
Mesothelium
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article first published online: 13 January 2012.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
School of Medicine Publications
 
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