Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Basement Membrane / chemistry
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Basement Membrane / pathology
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Chromosome Mapping
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Chromosomes, Human, Pair 10
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DNA-Binding Proteins / genetics*
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Disease Models, Animal*
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Finland / epidemiology
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Genes*
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Genes, Recessive
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Genetic Markers
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Humans
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Incidence
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Kidney Glomerulus / chemistry
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Kidney Glomerulus / pathology
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Lod Score
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Mice
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Mice, Transgenic*
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Nephrotic Syndrome / congenital
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Nephrotic Syndrome / epidemiology
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Nephrotic Syndrome / genetics*
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PAX2 Transcription Factor
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Transcription Factors / genetics*
Substances
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DNA-Binding Proteins
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Genetic Markers
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PAX2 Transcription Factor
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PAX2 protein, human
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Pax2 protein, mouse
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Transcription Factors