Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to type I but not to type III cystinuria

María Julia Calonge, Victor Volpini, Luigi Bisceglia, Ferran Rousaud, Luisa De Sanctis, Ercole Beccia, Leopoldo Zelante, Xavier Testar, Antonio Zorzano, Xavier Estivill, Paolo Gasparini, Virginia Nunes, Manuel Palacín

Research output: Contribution to journalArticlepeer-review


Cystinuria is an autosomal recessive aminoaciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. Linkage with heterogeneity was proved (α = 0.45; P <0.008). Type I/I families showed homogeneous linkage to SLC3A1 (Z(max) > 3.0 at θ = O.00; α = 1), whereas types I/III and III/III were not linked. Our data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III. This result establishes genetic heterogeneity for cystinuria, classically considered as a multiallelic monogenic disease.

Original languageEnglish
Pages (from-to)9667-9671
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number21
Publication statusPublished - Oct 10 1995


  • neutral and basic amino acid transporter
  • rBAT gene

ASJC Scopus subject areas

  • Genetics
  • General


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