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

Table 2 Summary of the mutation detection results for SLC3A1 and SLC7A9 in a cohort of 103 cystinuria patients

	two mutations	one mutation explaining cystinuria^a	only one mutation	no mutation
SLC3A1	39°	2	17	/
SLC7A9	11	16	/	/
mixed	1	/	/	/
total	51 (49.5%)	18 (17.5%)	17 (16.5%)	17 (16.5%)

^aheterozygosity of the duplication of exons 5 to 9 in SLC3A1 and of SLC7A9 mutations without parallel occurrence of a second mutation has been reported to be sufficient to cause cystinuria; °including large HCS deletions

ISSN: 1471-2369