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A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

✍ 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

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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