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
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells
β Scribed by Matsuura, Toshinobu; Koitabashi, Yasushi; Takada, Tsuneo; Yoshioka, Kazuo; Endo, Fumio; Matsuda, Ichiro; Nakazato, Hitoshi; Hattori, Shinzaburo; Ushijima, Tadashi
- Book ID
- 109883853
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 870 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0085-2538
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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
Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation
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