Studies investigating CTNS mutations in Cystinosis patients from the Far East have likewise reported several alleles including compound heterozygous mutation c.329G>C, c.329+2T>C in Japan, c.926G>A, c.850C>T, c.18-21del/c and c.969C>G in Thailand, and compound heterozygous mutations c.329+1del andc.463_464del in China while none of the reported cases carried the 57-kb deletion (27–29) but a smaller deletion encompassing ~20 kb of genomic DNA extending from CARKL intron 1 to CTNS intron 6, c.771–793del, and a c.1515G>A variant have been reported in Tunisian nephrotic patients (30). This evidence concerns the gene SHPK and cystinosis.