Characterization of CTNS mutations in Arab patients with Cystinosis

被引：22

作者：

Aldahmesh, Mohammed A. ^{[1
]}

Humeidan, Amal ^{[2
]}

Almojalli, Hamad A. ^{[3
]}

Khan, Arif O. ^{[1
,4
]}

Rajab, Mohammed ^{[1
]}

Al-Abbad, Abbas A. ^{[3
]}

Meyer, Brian F. ^{[1
]}

Alkuraya, Fowzan S. ^{[1
,5
,6
,7
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Div Ophthalmol, Dept Surg, Riyadh 11211, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Div Pediat Nephrol, Riyadh 11211, Saudi Arabia

[4] King Khalid Eye Specialist Hosp, Dept Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

[5] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

[6] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia

[7] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

来源：

OPHTHALMIC GENETICS | 2009年 / 30卷 / 04期

关键词：

Cystinosin; Deletion; NEPHROPATHIC CYSTINOSIS; GENE;

D O I：

10.3109/13816810903200953

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: 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. Purpose: To identify CTNS mutations in Arab cystinosis patients. Methods: 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. Results: Eight mutations were identified, four of which are novel (c. 530A>G, c. 681G>A, 1013T>G, and c. 1018_1041del). Conclusion: These alleles will provide the basis for routine molecular diagnosis of cystinosis in the region.

引用

页码：185 / 189

页数：5

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