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Identification of a single base insertion in the COL4A5 gene in Alport syndrome

โœ Scribed by Nakazato, Hitoshi; Hattori, Shinzaburo; Matsuura, Toshinobu; Koitabashi, Yasushi; Endo, Fumio; Matsuda, Ichiro


Book ID
109882547
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
602 KB
Volume
44
Category
Article
ISSN
0085-2538

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This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate

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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