Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model.
Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease with an incidence of 1 in 8000 in Finland. CNF is characterized by massive proteinuria and nephrotic syndrome at birth. In a recent report, deregulation of expression of the gene coding for the Pax-2 DNA-binding protein was shown to generate severe kidney abnormalities in transgenic mice resembling the clinical and pathological findings in congenital nephrotic syndrome, making it a candidate gene for CNF. However, in this study, we have unequivocally excluded the Pax-2 gene locus as a causative for congenital nephrotic syndrome of the Finnish type.
Kestilä
M
M
Biocenter, University of Oulu, Finland.
Männikkö
M
M
Holmberg
C
C
Tryggvason
K
K
Peltonen
L
L
D000818:Animals; D001485:Basement Membrane / Q000737:chemistry / Q000473:pathology; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004268:DNA-Binding Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D005387:Finland / Q000453:epidemiology; D005796:Genes; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D015994:Incidence; D007678:Kidney Glomerulus / Q000737:chemistry / Q000473:pathology; D008126:Lod Score; D051379:Mice; D008822:Mice, Transgenic; D009404:Nephrotic Syndrome / Q000151:congenital / Q000453:epidemiology / Q000235:genetics*; D051762:PAX2 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D005819:Genetic Markers; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; C497319:Pax2 protein, mouse; D014157:Transcription Factors