Two novel CTNS mutations in cystinosis patients in Thailand

被引：11

作者：

Yeetong, Patra ^{[2
,4
]}

Tongkobpetch, Siraprapa ^{[2
]}

Kingwatanakul, Pornchai ^{[3
]}

Deekajorndech, Tawatchai ^{[3
]}

Bernardini, Isa M. ^{[5
]}

Suphapeetiporn, Kanya ^{[1
,2
]}

Gahl, William A. ^{[5
]}

Shotelersuk, Vorasuk ^{[2
]}

机构：

[1] King Chulalongkorn Mem Hosp, Div Med Genet & Metab, Dept Pediat, Excellence Ctr Med Genet, Bangkok 10330, Thailand

[2] Chulalongkorn Univ, Fac Med, Dept Pediat, Ctr Excellence Med Genet, Bangkok 10330, Thailand

[3] Chulalongkorn Univ, Pediat Nephrol Div, Dept Pediat, Fac Med, Bangkok 10330, Thailand

[4] Chulalongkorn Univ, Fac Grad Sch, Interdept Program Biomed Sci, Bangkok 10330, Thailand

[5] NHGRI, Med Genet Branch, Bethesda, MD 20892 USA

来源：

GENE | 2012年 / 499卷 / 02期

关键词：

Cystinosis; CTNS; Novel mutations; Thai; NEPHROPATHIC CYSTINOSIS; GENE;

D O I：

10.1016/j.gene.2012.03.047

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cystinosis is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. We performed mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, we identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported. This study expands the mutational and population spectrum of nephropathic cystinosis. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：323 / 325

页数：3

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