Mason Silvia, Pepe Guglielmina, Dall'Amico Roberto, Tartaglia Sara, Casciani Stefania, Greco Marcella, Bencivenga Paola, Murer Luisa, Rizzoni Gianfranco, Tenconi Romano, Clementi Maurizio
Clinical Genetics, Department of Pediatrics, University of Padua, Italy.
Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993.
Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread throughout the entire gene. In the present study, we report the CTNS mutations identified in 42 of 46 Italian families with NC. The percentage of mutations characterized in this study is 86%. The mutational spectrum of the Italian population is different from that of populations of North European origin: the 57-kb deletion is present in a lower percentage, while the splicing mutations represent 30% of mutation detected in our sample. In all, six novel mutations have been identified, and the origin of one recurrent mutation has been traced.
经典型肾病性或婴儿型胱氨酸病（NC）是一种常染色体隐性疾病；负责胱氨酸（CTNS）膜转运的整合膜蛋白胱氨酸转运体的编码基因已被克隆。对白种人患者CTNS基因的突变分析发现了一个常见的57kb缺失，以及散布于整个基因的其他几种突变。在本研究中，我们报告了在46个患有NC的意大利家族中的42个家族中鉴定出的CTNS突变。本研究中已明确特征的突变百分比为86%。意大利人群的突变谱与北欧人群不同：57kb缺失出现的百分比更低，而剪接突变在我们样本中检测到的突变中占30%。总共已鉴定出6种新突变，并追踪到一种复发性突变的起源。
