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Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

✍ Scribed by Tauro M. Neri; Paola Zanelli; Giuseppe De Palma; Mario Savi; Sandro Rossetti; Alberto E. Turco; Gian Franco Pignatti; Lucia Galli; Mirella Bruttini; Alessandra Renieri; Rita Mingarelli; Antonella Trivelli; Angela Rosa Pinciaroli; Mauro Ragaiolo; Gian Franco Rizzoni; Mario De Marchi


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
316 KB
Volume
11
Category
Article
ISSN
1059-7794

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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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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

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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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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

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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

A two-tier approach to mutation detectio
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About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gen