A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Date
1998
Authors
Town, M.
Jean, G.
Cherqui, S.
Attard, M.
Forestier, L.
Whitmore, S.
Callen, D.
Gribouval, O.
Broyer, M.
Bates, G.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Nature Genetics, 1998; 18(4):319-324
Statement of Responsibility
Margaret Town, Geneviève Jean, Stèphanie Cherqui, Marlene Attard, Lionel Forestier, Scott A. Whitmore, David F. Callen, Olivier Gribouval, Michel Broyer, Gillian P. Bates, William van't Hoff & Corinne Antignac
Conference Name
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.