title: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
abstract: This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate of 90% was achieved among patients with typical clinical symptoms and a characteristic family history in both X-linked and autosomal recessive forms, and it can be assumed that most relevant mutations have been identified. In numerous positively tested patients, genetic variations which are unknown were detected.
authors.affiliation: Laboratory for Molecular Diagnostic, Center for Nephrology and Metabolic Disorders, A.-Schweitzer-Ring 32, D-02943 Weisswasser, Germany.
authors.forename: Mato
authors.initials: M
authors.lastname: Nagel
authors.forename: Sylvia
authors.initials: S
authors.lastname: Nagorka
authors.forename: Oliver
authors.initials: O
authors.lastname: Gross
mesh_terms: D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D015203:Reproducibility of Results
chemical_list: D003094:Collagen