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.

International audienceElectron-lattice energy exchanges are investigated in gold and silver nanoparticles with sizes ranging from 30 to 2.2 nm embedded in different environments. Femtosecond pump-probe experiments performed in the low-perturbation regime demonstrate a strong increase of the intrinsic electron-phonon interaction for nanoparticles smaller than 10 nm due to a confinement effect