A Single-Base Mutation in Exon 31 Converting Glycine 852 to Arginine in the Collagenous Domain in an Alport Syndrome Patient
- 1 January 1996
- journal article
- case report
- Published by S. Karger AG in Nephron
- Vol. 74 (2) , 333-336
- https://doi.org/10.1159/000189331
Abstract
In a family with Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the α5(IV) chain of glomerular basement membrane collagen, revealed a GGA→AGA change in exon 31, resulting in substitution of an arginine for a glycine in position 852 of the polypeptide chain, between interruptions 16 and 17 of the triple-helical collagenous domain. The mutation causes the MaeIrestriction sites, and could be easily diagnosed in the family members through restriction analysis. This one point mutation can be expected to interrupt type IV collagen molecules.Keywords
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