Mutations of CTNS causing intermediate cystinosis

Six patients with the intermediate form of cystinosis are described. Two ha ve new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephr opathic cystinosis or to homozygosity for a predicted mild mutation. Par ti al phenotypic correction of cystinotic fibroblasts by transfection with nor mal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated. (C) 1999 Academic Press.