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Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Nature Genetics volume 6, pages 420–425 (1994)Cite this article

Abstract

Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine. Six missense mutations in the human rBAT gene, which is involved in high–affinity transport of cystine and dibasic amino acids in kidney and intestine, segregate with cystinuria. These mutations account for 30% of the cystinuria chromosomes studied. Homozygosity for the most common mutation (M467T) was detected in three cystinuric siblings. Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene.

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Author information

Authors and Affiliations

  1. Departament de Genética Molecular (IRO), Hospital Duran i Reynals, Autovía de Castelldefels, Km 2, 7, L'Hospitalet de Llobregat, Barcelona, 08907, Spain

    María Julia Calonge, Miguel Chillón, Xavier Estivill & Virginia Nunes

  2. Departament de Bioquímica i Fisiologia, Facultat de Biologia, Universitat de Barcelona, Avda, Diagonal 645, Barcelona, 08028, Spain

    María Julia Calonge, Josep Chillarón, Xavier Testar, Antonio Zorzano & Manuel Palacín

  3. Servizio di Genetica Medica, IRCCS-Ospedale “CSS”, San Giovanni Rotondo, Foggia, Italy

    Paolo Gasparini, Leopoldo Zelante & Bruno Dallapiccola

  4. Dipartimento Di Urologia, Università “La Sapienza”, Roma, Italy

    Michele Gallucci & Franco Di Silverio

  5. Servicio de Nefrología IUNA, Fundación Puigvert, Cartagena 340, Barcelona, 08025, Spain

    Ferran Rousaud & Pedro Barceló

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Calonge, M., Gasparini, P., Chillarón, J. et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6, 420–425 (1994). https://doi.org/10.1038/ng0494-420

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