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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Nature Genetics. vol 18. April 1998. 319-324. Margaret Town, Geneviève Jean, Stéphanie Cherqui, Marlene Attard, Lionel Forestier, Scott A. Whitmore, David F. Callen, Oliver Gribouval, Michel Broyer, Gillian P. Bates, William van't Hoff anc Corinne Antignac 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, were found to segregate with the disorder. |
| Linkage of the gene for cystinosis to markers on the short arm of chromosome 17, Nature Genetics, vol 10 June 1995. 246-248 The Cystinosis Collaborative Research Group (BLUE = US researchers, PURPLE=European researchers) Geraldine A. McDowell, William A. Gahl, Leah A. Stephenson, Jerry A. Schneider, Jean Weissenbach, Mihael H. Polymeropoulos, Margaret M. Town, William van't Hoff, Martin Garrall, Christopher G. Mathew
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes. Cystine storage leads to acidosis, dehydration, rickets and growth retardation in the first year of life, followed by renal glomerular failure at approximately ten years of age. Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting incomplications such as corneal ulcerations and retinal blindness, a distal vacuolar myopathy, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement. Treatment with the cystine-depleting agent, cysteamine (Cystagon |