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首页> 外文期刊>Genetic testing and molecular biomarkers >An Indian Boy with Nephropathic Cystinosis:A Case Report and Molecular Analysis of CTNS Mutation
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An Indian Boy with Nephropathic Cystinosis:A Case Report and Molecular Analysis of CTNS Mutation

机译：一个印度男孩Nephropathic胱氨酸病:一个案例报告和卡通突变的分子分析

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摘要

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by excessive accumulation of cystine within the lysosome. Cystinosis is caused by mutations in the lysosomal cystine transporter, cystinosin (CTNS). The CTNS gene consists of 12 exons and encodes for an integral lysosomal membrane protein with seven transmembrane domains. A majority of cystinotic patients are of European descents, and only a few cases have been reported from other ethnic groups. Here we report a case of nephropathic cystinosis in an Indian boy born to consanguineous parents. Major symptoms of the patient include weight loss, vomiting, dehydration, and cystine crystals in the cornea. Ichthyosis on the arms and legs is also observed. Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 3-bp in-frame deletion in exon 10 (с.809_811dе1ССT), resulting in the loss of a conserved p.Ser270de1 within the fifth transmembrane domain of CTNS. His parents are both heterozygous for the same mutation. This work represents the first molecular characterization of cystinotic patients from India. Interestingly, a p.Ser270de1 resulting from c.809_811delCCT in CTNS had been identified in a European patient. Therefore, it appears that this mutation arose independently in the two different continents.
机译：胱氨酸病是一种罕见的常染色体隐性的溶酶体贮藏病害特点是过度积累在溶酶体中胱氨酸。胱氨酸病是由突变引起的溶酶体胱氨酸,cystinosin(卡通)。卡通基因包括12个外显子和编码积分的溶酶体膜蛋白七个跨膜域。cystinotic欧洲下降的病人,和只有少数病例报告民族。nephropathic胱氨酸病生在一个印度男孩血缘的父母。病人包括减肥、呕吐、脱水、角膜和胱氨酸晶体。鱼鳞癣的胳膊和腿也观察到。所有卡通的外显子测序分析透露,渊源者是纯合的3-bp在坐标系删除外显子10(с.809_811dе1ССT)造成的损失守恒p.Ser270de1第五跨膜域的卡通。都为同一突变杂合的。工作是第一个分子cystinotic患者的特征印度。从卡通c.809_811delCCT已经确定在欧洲的病人。这种突变在两个独立起来不同的大洲。

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