Table 2.
Summary of the mutation detection results for SLC3A1 and SLC7A9 in a cohort of 103 cystinuria patients
| two mutations | one mutation explaining cystinuriaa | 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