We screened 17 patients for mutations in SLC3A1 and SLC7A9, 15 of whom were younger than 16 years at first stone formation. The search for mutations used PCR-based standard techniques, and was focused on point mutations and larger deletions and duplications in both genes.
Apart from detection of mutations in approximately 70 % of patients but identification of only 53 % of alleles, we detected three novel mutations as well as three new polymorphisms.
The detection rate in young cystinuria patients is lower than that in older patients, and there is a different pattern of variants. There is evidence for other (probably genetic) factors being involved in the pathophysiology of cystinuria.
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