@entity21188 mutations account for only 15  % of XXXX cases.

@entity1 @entity8 @entity6333 @entity8587 @entity21188 @entity1985 @entity479
BACKGROUND: @entity1985 is traditionally classified on the basis of the response to standard @entity479 treatment. Mutations in more than 24 genes have been associated with @entity1985 in @entity1 , although the great majority of @entity479 -resistant cases have been attributed to mutations in three main genes: @entity6333 , @entity21188 and @entity8587 . The aims of this study were to identify mutations in these genes more frequently reported as mutated and to characterize each variation using different in silico prediction algorithms in order to understand their biological functions. METHODS: We performed direct sequence analysis of exons 8 and 9 of @entity8587 , 8 exons of @entity21188 and 29 exons of @entity6333 , including @entity21188 and @entity6333 intron-exon boundary sequences, as well as 700  bp of the 5' UTR from both genes in 27 @entity479 -resistant @entity1 aged between 3  months and 18  years. RESULTS: Analysis of the @entity21188 gene revealed four missense mutations, one frameshift mutation and three variations in the 5' UTR. Four @entity1 presented compound heterozygosis, and four other @entity1 presented one heterozygous alteration only. @entity8587 and @entity6333 gene analysis did not reveal any mutations. DISCUSSION: This is the first study focusing on genetics of  SRNS in Brazilian @entity1 . Identification of mutations is important because it could  influence physicians' decision on @entity1 treatment, as @entity1 carrying mutations can  be spared the side effects of immunosuppressive therapy and ultimately could be  considered for kidney transplantation from a living donor. CONCLUSIONS: After molecular analysis of the genes more frequently reported as mutated in 27 @entity479 -resistant @entity1985 @entity1 , we identified @entity21188 mutations confirming the hereditary character of the @entity8 in only 14.8  % of @entity1 . Therefore, the next step is to perform a next generation sequencing based analysis of glomeluropathy-related panel of genes for the remaining @entity1 in order to search for mutations in other genes related to @entity479 -resistant @entity1985 .
