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Background  Cystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated  SLC3A1  and  SLC7A9  genes are the cause of CU, a global disorder. Its frequency and mutation spectrum vary between different populations. In Asia, the data for CU are limited.    Method  Urinary stones were collected from patients of a single center over a five-year period and analyzed  via  Fourier transform infrared spectroscopy. Genomic DNA was isolated from 13 patients with CU and their parents and from 26 controls affected by calcium oxalate dihydrate stones. The coding regions and the exon–intron boundaries of  SLC3A1  and  SLC7A9  were subjected to PCR amplification and then sequenced  via  traditional Sanger sequencing. Genetic variants were functionally annotated using the InterVar, ClinVar, gnom AD, and HGMD databases.    Results  From the 232 samples of urinary stones, we identified 13 patients with CU (10 males and 3 females). The onset age was from 7 months to 9 years. The CU stones varied from 0.26 cm 3  to 18.67 cm 3 . Sanger sequencing detected a total of 14  SLC3A1  (nine were novel) and 10  SLC7A9  (six were novel) rare variants from the 13 CU families. All variants, including 15 novel variants, were pathogenic, disease-causing, or damaging.    Conclusion  All 13 pediatric CU families harbored  SLC3A1  or/and  SLC7A9  rare variants. A total of 15 novel pathogenic variants in  SLC3A1  and  SLC7A9  were identified. This study expanded the known mutational spectrum of CU in the Chinese population.

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9