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. 2006 Jul;38(7):755-7.
doi: 10.1038/ng1824. Epub 2006 Jun 11.

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

Eranga N Vithana  1 , Patricio Morgan, Periasamy Sundaresan, Neil D Ebenezer, Donald T H Tan, Moin D Mohamed, Seema Anand, Khin O Khine, Divya Venkataraman, Victor H K Yong, Manuel Salto-Tellez, Anandalakshmi Venkatraman, Ke Guo, Boomiraj Hemadevi, Muthiah Srinivasan, Venkatesh Prajna, Myint Khine, Joseph R Casey, Chris F Inglehearn, Tin Aung
Affiliations

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

Eranga N Vithana et al. Nat Genet. 2006 Jul.

Abstract

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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