Chatzikyriakidou Anthoula, Sofikitis Nikolaos, Georgiou Ioannis
Genetics Unit, Department of Obstetrics and Gynaecology, Ioannina University School of Medicine, Ioannina, Greece.
Genet Test. 2005 Fall;9(3):175-84. doi: 10.1089/gte.2005.9.175.
Cystinuria represents 3% of nephrolithiasis in humans with an overall prevalence of 1 in 7,000 neonates. Two genes have been reported to account for the genetic basis of cystinuria, the SLC3A1 and the SLC7A9. Recently, the possible involvement of the SLC7A10 gene in the genetic basis of the disorder was also reported. In the present study, we found a total of 15 mutations in 20 Greek cystinuric patients. Eight mutations are novel, 4 in the SLC3A1: F266S, T351I, R456C, and N516D, and 4 in the SLC7A9: 479-1G>C, Y232C, D233E, and 1399+1G>T. Furthermore, 2 polymorphisms were identified in the SLC3A1 gene and 16 polymorphic variants were also found in the SLC7A9 gene of which the 235+18C>A, 604+10G>A, and 604+24T>C are novel. Finally, no mutation was found in the SLC7A10 gene in all patients. Only, the novel 634+8C>G and the previously reported 913-11C+T polymorphisms were identified in the SLC7A10 gene. In conclusion, a spectrum of SLC3A1 and SLC7A9 mutations are responsible for the genetic basis of cystinuria in Greek patients.
胱氨酸尿症占人类肾结石病例的3%，在新生儿中的总体患病率为七千分之一。据报道，有两个基因是胱氨酸尿症遗传基础的病因，即SLC3A1和SLC7A9。最近，也有报道称SLC7A10基因可能参与了该疾病的遗传基础。在本研究中，我们在20名希腊胱氨酸尿症患者中总共发现了15个突变。其中8个突变是新发现的，4个在SLC3A1基因中：F266S、T351I、R456C和N516D，4个在SLC7A9基因中：479-1G>C、Y232C、D233E和1399+1G>T。此外，在SLC3A1基因中鉴定出2个多态性，在SLC7A9基因中还发现了16个多态性变体，其中235+18C>A、604+10G>A和604+24T>C是新发现的。最后，在所有患者的SLC7A10基因中未发现突变。仅在SLC7A10基因中鉴定出了新的634+8C>G和先前报道的913-11C+T多态性。总之，一系列SLC3A1和SLC7A9突变是希腊患者胱氨酸尿症遗传基础的病因。
