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- Title
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
- Authors
Vithana, Eranga N; Morgan, Patricio; Sundaresan, Periasamy; Ebenezer, Neil D; 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
- 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.
- Publication
Nature genetics, 2006, Vol 38, Issue 7, p755
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1824