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={E. Vithana and P. Morgan and Periasamy Sundaresan and N. Ebenezer and D. Tan and M. Mohamed and S. Anand and K. O. Khine and D. Venkataraman and V. Yong and M. Salto-Tellez and Anandalakshmi Venkatraman and Ke Guo and B. Hemadevi and M. Srinivasan and V. Prajna and M. Khine and J. Casey and C. Inglehearn and T. 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. 
Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophy a
SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy
Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
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NATURE GENETICS VOLUME
  • Biochem. Biophys. Res
  • 2001