New Alport syndrome research has been reported by scientists at University of Ljubljana, Molecular Genetics Institute
2007 JUL 3 -- Data detailed in "Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria" have been presented. "Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal-recessive and -dominant type of ATS or BFH," investigators in Ljubljana, Slovenia report. "In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. This study involved screening each exon with boundary intronic sequences of COL4A3, COL4A4, and COL4A5 genes by optimized polymerase chain reaction-single-stranded conformational polymorphism analysis in 17 families with ATS and in 40 families diagnosed as having BFH. Twelve different mutations were found in the COL4A5 gene in ATS patients, comprising nine missense mutations, a splice site mutation, a mutation causing frameshift, and a nonsense mutation. One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH. Three heterozygous mutations in the COL4A3 gene (two missense and one frameshift) and four heterozygous mutations in COL4A4 (two splice site, one in-frame deletion, and one missense) were identified in patients with BFH," wrote M. Slajpah and colleagues, University of Ljubljana, Molecular Genetics Institute. The researchers concluded: "Sixteen mutations are to the best of our knowledge new and private." Slajpah and colleagues published their study in Kidney International (Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney International, 2007;71(12):1287-95). For additional information, contact M. Slajpah, University of Ljubljana, Dept. of Molecular Genetics, Institute of Pathology, Faculty of Medicine, Ljubljana, Slovenia. The publisher of the journal Kidney International can be contacted at: Blackwell Publishing Inc., 350 Main St., Malden, MA 02148, USA. Keywords: Slovenia, Ljubljana, Alport Syndrome, Hematuria, Hereditary Nephritis, Nephrology. 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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