Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore S A, Callen D F, Gribouval O, Broyer M, Bates G P, van't Hoff W, Antignac C
Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy's Hospital, London, UK.
Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319.
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.
肾性胱氨酸病是一种常染色体隐性疾病，由溶酶体对胱氨酸的转运缺陷引起，是肾性范科尼综合征最常见的遗传病因。胱氨酸病基因已被定位到17号染色体p13区域。我们发现，在70例患者中，有23例的D17S829位点纯合缺失，并鉴定出一个新基因CTNS，该基因定位于缺失区间。CTNS编码一种整合膜蛋白胱氨酸转运体，具有溶酶体膜蛋白的特征。我们发现11种不同的突变，均预计会导致该蛋白功能丧失，且这些突变与该疾病相关。
