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Mutations in the Genomic Deoxyribonucleic Acid for SLC3A1 in Patients with Cystinuria¹

Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, Texas 75235-8885

Address all correspondence and requests for reprints to: Dr. William L. Gitomer, Center for Mineral Metabolism and Clinical Research, 8885 University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75235-8885. E-mail: william.gitomer{at}email.swmed.edu

Cystinuria is an inherited transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. We have studied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystinurics. We found mutations in 34 of the 66 chromosomes studied. There were 14 different mutations in our study population, 8 of which had not been previously described. Of these new mutations, 4 were missense mutations: G1934C, C1259G, T1607G, and G1373A. The other 4 mutations consisted 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 (del C431–3 to T463) and a duplication insertion of 468 T to 474 A after nucleotide 474.

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