Research Center for Thalassemia and Hemoglobinopathy, Jondishapour University of Medical Sciences, Ahvaz, Iran.
Nefrologia. 2013;33(3):308-15. doi: 10.3265/Nefrologia.pre2012.Sep.11558. Epub 2013 Feb 15.
Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC.
Polymerase chain reaction and direct sequencing were performed for molecular characterization of the CTNS gene in 25 patients from 24 unrelated Iranian families with NC.
None of the patients showed the 57 kb deletion in heterozygous or homozygous manner. One was homozygous for a novel mutation, which was termed as "c.153-155insCT", while one of the cases was homozygous and another was compound heterozygous for the second novel mutation c.923G>A. Moreover three known mutations c.18-21delGACT, c.1017G>A, and c.681G>A in 11 of the patients were detected. No apparent mutation was observed in the rest of patients (44%, n=11).
The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC, at least in the Southwestern Iran, where Arab ethnicity is one of the common ethnicities of the region.
肾性胱氨酸病（NC）是一种罕见的代谢紊乱疾病，其病因是 CTNS 基因突变，迄今为止已报道超过 90 种不同的突变。本研究旨在调查伊朗 NC 患者 CTNS 基因及其启动子的突变情况。
对 24 个无关的伊朗 NC 家系的 25 名患者进行 CTNS 基因的聚合酶链反应和直接测序，以进行分子特征分析。
患者均未表现出杂合子或纯合子方式的 57kb 缺失。1 名患者为新型突变的纯合子，称为“c.153-155insCT”，而 1 例为纯合子，另 1 例为第二种新型突变 c.923G>A 的复合杂合子。此外，在 11 名患者中检测到了 3 种已知的突变 c.18-21delGACT、c.1017G>A 和 c.681G>A。其余患者（44%，n=11）未观察到明显的突变。
本研究数据为伊朗患者（至少在西南部的伊朗，阿拉伯民族是该地区的常见民族之一）的分子携带者检测和产前诊断提供了基础，其比例相对较高。
