De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

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Abstract
Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G↑ A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.