Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

被引：38

作者：

Aldahmesh, Mohammed A. ^{[1
]}

Khan, Arif O. ^{[1
,2
]}

Meyer, Brian F. ^{[1
]}

Alkuraya, Fowzan S. ^{[1
,3
,4
,5
]}

机构：

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

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

[3] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia

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

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

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2009年 / 50卷 / 09期

关键词：

HEREDITARY ENDOTHELIAL DYSTROPHY; CORNEAL-DYSTROPHY; MESSENGER-RNA; GENE; ENHANCER;

D O I：

10.1167/iovs.08-3006

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE. To determine the extent of allelic, and possibly locus, heterogeneity in congenital hereditary endothelial dystrophy (CHED, MIM 217700) in patients from a highly consanguineous Saudi population. METHODS. Homozygosity was determined at the solute carrier family 4, sodium bicarbonate transporter-like, member 11 (SLC4A11) locus followed by full sequencing of SLC4A11 in 10 patients representing seven unrelated families. RESULTS. All 10 patients were homozygous at the SLC4A11 locus. Seven mutations were identified, five of which are novel, including one likely intronic splicing enhancer mutation, all predicted to result in reduction or loss of bicarbonate transporter-related protein 1 (BTR1). CONCLUSIONS. In this small cohort, no evidence was found of genetic heterogeneity in CHED and that loss of BTR1 function is the most likely mutational mechanism. (Invest Ophthalmol Vis Sci. 2009; 50: 4142-4145) DOI: 10.1167/iovs.08-3006

引用

页码：4142 / 4145

页数：4

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