Aldahmesh Mohammed A, Humeidan Amal, Almojalli Hamad A, Khan Arif O, Rajab Mohammed, AL-Abbad Abbas A, Meyer Brian F, Alkuraya Fowzan S
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953.
Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.
To identify CTNS mutations in Arab cystinosis patients.
In this study, we have analyzed the mutational spectrum of CTNS in a population of 21 patients from 13 families of Arab origin. The entire coding region and flanking intronic regions of CTNS were analyzed by direct sequencing.
Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del).
These alleles will provide the basis for routine molecular diagnosis of cystinosis in the region.
胱氨酸贮积症是一种常染色体隐性疾病，其特征是游离胱氨酸从溶酶体的转运受损，从而导致肾脏和眼部表现。编码胱氨酸转运体的CTNS基因突变是这种常染色体隐性疾病的唯一已知病因，迄今为止已描述了85种以上不同的突变。
鉴定阿拉伯胱氨酸贮积症患者中的CTNS基因突变。
在本研究中，我们分析了来自13个阿拉伯裔家庭的21例患者群体中CTNS的突变谱。通过直接测序分析CTNS的整个编码区和侧翼内含子区。
鉴定出8种突变，其中4种是新突变（c.530A>G、c.681G>A、1013T>G和c.1018_1041del）。
这些等位基因将为该地区胱氨酸贮积症的常规分子诊断提供依据。
