MUTATIONS IN THE GENOMIC DEOXYRIBONUCLEIC-ACID FOR SLC3A1 IN PATIENTSWITH CYSTINURIA

Cystinuria is an inherited transport disorder characterized by defecti ve renal resorption of cystine and other dibasic aminoacids. We have s tudied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystin urics. We found mutations in 34 of the 66 chromosomes studied. There w ere 14 different mutations in our study population, 8 of which had not been previously described. Of these new mutations, 4 were missense mu tations: G1934C, C1259G, T1607G, and G1373A. The other 4 mutations con sisted of a single base insertion mutation (2022 ins T), a single base deletion mutation (163 del C), a 23-base deletion mutation (del 782A- 804A), and a complex mutation that consisted of a 36-base deletion (de l C431-3 to T463) and a duplication insertion of 468 T to 474 A after nucleotide 474.