Detection of mutations in COL4A5 in patients with Alport syndrome

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six t ype IV collagen genes. For the purposes of confirming diagnoses, carrier sc reening and correlating genotype to phenotype, we have screened all 51 exon s of this gene by SSCP analysis in 153 families with suspected AS. Mutation s were identified in 77 families (of which 20 have previously been reported ) and are reported with all available clinical information. All types of mu tation were found (missense, nonsense, splicing, small and large deletions and insertions), with the commonest type being those affecting glycine resi dues in the collagen triple helix, Our 50% detection rate is similar to tha t of other groups and may imply the presence of mutations outside of the CO L4A5 coding region or the existence of a second X-linked AS gene. Hum Mutat 13:124-132, 1999. (C) 1999 Wiley-Liss, Inc.