Deletions of the COL4A5 gene in patients with Alport syndrome

Kai Olaf Netzer, Lutz Renders, Jing Zhou, Oliver Pullig, Karl Tryggvason, Manfred Weber

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

Abstract

Mutations in the COL4A5 gene encoding the α5 chain of type IV collagen have been found in linkage with X-chromosomal Alport syndrome (AS). To identify COL4A5 mutations in patients from Germany with clinically defined AS, DNA from 20 unrelated patients was analyzed by conventional Southern blotting. By using full length α5(IV) cDNA probes, large COL4A5 deletions could be detected in two patients. In one case, a 34 kb deletion affecting the 14 most 3′ exons of the gene was observed. The second patient harbored a complete COL4A5 deletion. In both cases, functional α5(IV) mRNA was unlikely to be present. Clinically, both patients developed end-stage renal failure before age 30. Furthermore, they had characteristic retinal flecks, and sensorineural hearing loss with typical changes on the audiogram. The patient with the complete deletion of COL4A5 lost the renal allograft due to an anti-GBM mediated glomerulonephritis.

Original languageEnglish
Pages (from-to)1336-1344
Number of pages9
JournalKidney International
Volume42
Issue number6
DOIs
StatePublished - Dec 1992

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