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Background  Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The  SLC3A1 / rBAT  gene encodes the heavy subunit of the heterodimeric rBAT-b 0,+ AT transporter, whereas the light chain is encoded by the  SLC7A9 /  b   0,+   AT  gene. In nearly 85% of patients mutations in both genes are detectable, but a significant number of patients currently remains without a molecular diagnosis. Thus, the existence of a further cystinuria gene had been suggested, and the recently identified AGT1/SLC7A13 represents the long-postulated partner of rBAT and third cystinuria candidate gene.    Methods  We screened a cohort of 17 cystinuria patients for  SLC7A13  variants which were negative for  SLC3A1  and  SLC7A9  mutations.    Results  Despite strong evidences for an involvement of  SLC7A13  mutations in cystinuria, we could not confirm a relevant role of  SLC7A13  for the disease.    Conclusion  With the exclusion of  SLC7A13 /AGT1 as the third cystinuria gene accounting for the  SLC3A1  and  SLC7A9  mutation negative cases, it becomes obvious that other genetic factors should be responsible for the cystinuria phenotype in nearly 15% of patients.

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria