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Hum Mutat. 2005 Jul;26(1):60.

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

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Laboratory for Molecular Diagnostic, Center for Nephrology and Metabolic Disorders, A.-Schweitzer-Ring 32, D-02943 Weisswasser, Germany.


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.

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