X-linked Alport syndrome : Mutation survey over all 51 exons of the COL4A5 gene

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Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane (GBM) and neurosensory deafness. The most frequent type, X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen alpha5 chain (alpha5 (IV) ).Mutation analysis of all 51 exons of the COL4A5 gene has been performed by some groups. However, These surveys were performed by SSCP analysis using genomic DNA and the detection rate of mutations was less than 50%. In this study we performed mutation survey over all 51 exons of the COL4A5 gene by reverse transcription-polymerase chain reaction (RT-PCR) and direct sequence using mRNA.Mutations were detected in all male patients and 78% of female patients. Our result help in the design of a better strategy for mutation identification in X-linked Alport syndrome and facilitate genotype-phenotype correlations.