## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.
Deletions of the COL4A5 gene in patients with Alport syndrome
โ Scribed by Netzer, Kai-Olaf; Renders, Lutz; Zhou, Jing; Pullig, Oliver; Tryggvason, Karl; Weber, Manfred
- Book ID
- 109882248
- Publisher
- Nature Publishing Group
- Year
- 1992
- Tongue
- English
- Weight
- 831 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0085-2538
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Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with Xlinked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 17