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

@article{Vithana2006MutationsIS,
  title={Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)},
  author={Eranga Nishanthie Vithana and Patricio E. Morgan and Periasamy Sundaresan and Neil D. Ebenezer and Donald T. Tan and Moin D. Mohamed and Seema Anand and Khin O Khine and Divya Venkataraman and Victor H. K. Yong and Manuel Salto‐Tellez and Anandalakshmi Venkatraman and Ke Guo and Boomiraj Hemadevi and Muthiah Srinivasan and Venkatesh N Prajna and Myint Myint Khine and Joseph R Casey and Chris F. Inglehearn and Tin Aung},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={755-757}
}
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. 

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Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families
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