Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 1169–1171

Search for mutations in SLC1A5 (19q13) in cystinuria patients

Short Report

Summary

To elucidate whether SLC1A5 is involved in the aetiology of cystinuria, we screened two non-type I cystinuria families without detectable mutations inSLC7A9 (and SLC3A1) but compatible with linkage to 19q13 for genomic variants in SLC1A5. Despite evidence for an involvement of SLC1A5 in the aetiology of cystinuria, we could not identify any mutation in this gene in the two families. With SLC1A5, a further candidate gene for cystinuria can be excluded as being involved in the pathogenesis of this disease in these two families. Of course, there remains the possibility that other genes are involved in cystinuria; further molecular studies will clarify the complex nature of this disorder.

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References

  1. Bisceglia L, Calonge MJ, Totaro A, et al (1997) Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60: 611–616.PubMedGoogle Scholar
  2. Botzenhart E, Vester U, Schmidt C, et al (2002) Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int 62: 1136–1142.CrossRefPubMedGoogle Scholar
  3. Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, et al (2005) New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42: 58–68.CrossRefPubMedGoogle Scholar
  4. Pineda M, Font M, Bassi MT, et al (2004) The amino acid transporter asc-1 is not involved in cystinuria. Kidney Int 66: 1453–1464.CrossRefPubMedGoogle Scholar
  5. Potter SJ, Lu A, Wilcken B, Green K, Rasko JEJ (2002) Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5. J Inherit Metab Dis 25: 437–448.CrossRefPubMedGoogle Scholar
  6. Pras E, Arber N, Aksentijevich I, et al (1994) Localization of a gene causing cystinuria to chromosome 2p. Nature Genetics 6: 415–418.CrossRefPubMedGoogle Scholar
  7. Schmidt C, Vester U, Hesse A, et al (2004a) The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urol Res 32: 75–78.Google Scholar
  8. Schmidt C, Vester U, Zerres K, Eggermann T (2004b) No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria. Clin Nephrol 62: 71–73.Google Scholar
  9. Wartenfeld R, Golomb E, Katz G, et al (1997) Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60: 617–624.PubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • E. Brauers
    • 1
  • U. Vester
    • 2
  • K. Zerres
    • 1
  • T. Eggermann
    • 1
  1. 1.Institute of Human GeneticsUniversity Hospital AachenAachenGermany
  2. 2.Children's HospitalUniversity Hospital EssenGermany

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