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Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

✍ Scribed by Mato Nagel; Sylvia Nagorka; Oliver Gross

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 78 KB
Volume: 26
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9349

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✦ Synopsis

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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