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, 38 (7), 755-7

Mutations in Sodium-Borate Cotransporter SLC4A11 Cause Recessive Congenital Hereditary Endothelial Dystrophy (CHED2)

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Mutations in Sodium-Borate Cotransporter SLC4A11 Cause Recessive Congenital Hereditary Endothelial Dystrophy (CHED2)

Eranga N Vithana et al. Nat Genet.

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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