Journal article
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, G Binenbaum, UB Jensen, P Cochat, S Decramer, J Dixon, R Drouin, MJ Falk, H Feret, R Gise, A Hunter, K Johnson, R Kumar, MP Lavocat, L Martin Show all
Human Mutation | Published : 2012
DOI: 10.1002/humu.22020
Abstract
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mu..
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Awarded by European Commission
Funding Acknowledgements
The authors would like to thank the patients and families who have contributed to this work. In addition, the authors wish to thank the many professionals who are not formally recognized, but have made significant contributions to this work including the staff of the molecular diagnostics laboratory at the University of Minnesota Medical Center, Fairview. Construction of the LOVD database has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754: The GEN2PHEN project.