A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome
β Scribed by Hertz, Jens Michael; Heiskari, Niina; Zhou, Jing; Jensen, Uffe Birk; Tryggvason, Karl
- Book ID
- 109884210
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 572 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0085-2538
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Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ
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