Mutations intheSLC3AITransporter GeneinCystinuria

Summary Cystinuria isanautosomal recessive disease characterized bythedevelopment ofkidney stones. Guided by theidentification oftheSLC3A1aminoacid-transport geneonchromosome 2,werecently established genetic linkage ofcystinuria tochromosome 2pin17families, without evidence forlocus heterogeneity. Other authors haveindependently identified missense mutations in SLC3A1incystinuria patients. Inthis report wedescribe fouradditional cystinuria-associated mutations inthis gene: aframeshift, adeletion, atransversion inducing a critical aminoacid change, andanonsense mutation. Thelatter stop codon wasfound inall ofeight AshkenaziJewish carrier chromosomes examined. This report brings thenumberofdisease-associated mutations in this geneto10.We also assess thefrequency ofthese mutations inour17cystinuria families.