New Alport syndrome findings from University of Melbourne, Department of Medicine published
2007 MAY 22 -- New investigation results, "Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases," are detailed in a study published in Pediatric Nephrology. "Both thin basement membrane nephropathy (TBMN) and autosomal recessive Alport syndrome result from mutations in the COL4A3 and COL4A4 genes, and this study documents further mutations and polymorphisms in these genes.Thirteen unrelated children with TBMN and five individuals with autosomal recessive Alport syndrome were examined for mutations in the 52 exons of COL4A3 and the 47 coding exons of COL4A4 using single-stranded conformation polymorphism (SSCP) analysis. Amplicons producing different electrophoretic patterns were sequenced, and mutations were defined as variants that changed an amino acid but were not present in 50 non-hematuric normals.Three further novel mutations were identified," researchers in Australia report. "These were IVS 22-5 T>A in the COL4A3 gene in a consanguineous family with autosomal recessive Alport syndrome, and R1677C and R1682Q in the COL4A4 gene. In addition, six novel polymorphisms (G455G, I462I, G736G and IVS 38-8 G>A in COL4A3, and L658L and A1577A in COL4A4) were demonstrated.Many different COL4A3 and COL4A4 mutations cause TBMN and autosomal recessive Alport syndrome," wrote K. Rana and colleagues, University of Melbourne, Department of Medicine. The researchers concluded: "The identification of polymorphisms in these genes is particularly important to enable diagnostic laboratories to distinguish mutations from uncommon normal variants." Rana and colleagues published their study in Pediatric Nephrology (Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases. Pediatric Nephrology, 2007;22(5):652-7). For additional information, contact K. Rana, University of Melbourne, Dept. of Medicine (AH, NH), The Northern Hospital, Epping, VIC, 3076, Australia. Publisher contact information for the journal Pediatric Nephrology is: Springer, 233 Spring Street, New York, NY 10013, USA. Keywords: Australia, Alport Syndrome, Hereditary Nephritis, Nephrology, Pediatric. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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