Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

被引：198
作者：
Vithana, Eranga N.
Morgan, Patricio
Sundaresan, Periasamy
D Ebenezer, Neil
Tan, Donald T. H.
Mohamed, Moin D.
Anand, Seema
Khine, Khin O.
Venkataraman, Divya
Yong, Victor H. K.
Salto-Tellez, Manuel
Venkatraman, Anandalakshmi
Guo, Ke
Hemadevi, Boomiraj
Srinivasan, Muthiah
Prajna, Venkatesh
Khine, Myint
Casey, Joseph R.
Inglehearn, Chris F.
Aung, Tin
机构：
[1] Singapore Eye Res Inst, Singapore 168751, Singapore
[2] Natl Univ Singapore, Dept Ophthalmol, Yong Soo Lin Sch Med, Singapore 117597, Singapore
[3] Aravind Med Res Fdn, Madurai 625020, Tamil Nadu, India
[4] Univ Alberta, Dept Physiol, Edmonton, AB T6G 2H7, Canada
[5] UCL, Inst Ophthalmol, London EC1V 9EL, England
[6] Singapore Natl Eye Ctr, Singapore 168751, Singapore
[7] St James Univ Hosp, Sect Ophthalmol & Neurosci, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England
[8] St James Univ Hosp, Eye Dept, Leeds Teaching Hosp NHS Trust, Leeds LS9 7TF, W Yorkshire, England
[9] Natl Univ Singapore, Dept Pathol, Singapore 117597, Singapore
[10] Yangon Eye Hosp, Yangon, Myanmar
[11] Univ Alberta, Dept Biochem, Edmonton, AB T6G 2H7, Canada
[12] Inst Mol & Cell Biol, Singapore 138673, Singapore
来源：
NATURE GENETICS | 2006年 / 38卷 / 07期
基金：
加拿大健康研究院; 英国医学研究理事会;
关键词：
D O I：
10.1038/ng1824
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Congenital hereditary endothelial dystrophy ( CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.
引用
收藏
页码：755 / 757
页数：3
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