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Detection of large deletion mutations in theCOL4A5gene of female Alport syndrome patients

✍ Scribed by Kandai Nozu; Rafal Przybyslaw Krol; Yasufumi Ohtsuka; Koichi Nakanishi; Norishige Yoshikawa; Yoshimi Nozu; Hiroshi Kaito; Kyoko Kanda; Yuya Hashimura; Yuhei Hamasaki; Kazumoto Iijima; Masafumi Matsuo


Publisher
Springer
Year
2008
Tongue
English
Weight
220 KB
Volume
23
Category
Article
ISSN
0931-041X

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Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen Ξ± Ξ±5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

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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