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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Nature Genetics volume 18, pages 319–324 (1998)Cite this article

Abstract

Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The cystinosis gene has been mapped to chromosome 17p13. We found that the locus D17S829 was homozygously deleted in 23 out of 70 patients, and identified a novel gene, CTNS, which mapped to the deletion interval. CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein. Eleven different mutations, all predicted to cause loss of function of the protein, were found to segregate with the disorder.

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Authors and Affiliations

  1. Division of Medical and Molecular Genetics, United Medical and Dental Schools, 7th. Floor, Guy's Tower, Guy's Hospital, London, SE1 9RT, UK

    Margaret Town, Marlene Attard & Gillian P. Bates

  2. INSERM U423, Tour Lavoisier, Universite Rene Descartes, 149 rue de Sevres, 7′5015, Paris, France

    Geneviève Jean, Stèphanie Cherqui, Lionel Forestier, Olivier Gribouval & Corinne Antignac

  3. Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, Australia

    Scott A. Whitmore & David F. Callen

  4. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université René Descartes, 149 rue de Sèvres, 7′5015, Paris, France

    Michel Broyer

  5. Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London, WC1N1EH, UK

    William van't Hoff

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  1. Margaret Town
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  2. Geneviève Jean
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Town, M., Jean, G., Cherqui, S. et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18, 319–324 (1998). https://doi.org/10.1038/ng0498-319

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