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Deletions of the COL4A5 gene in patients with Alport syndrome

โœ 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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## 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.

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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.

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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