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Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.

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

Author information

  • 1Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. evithana@yahoo.co.uk

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.

PMID:
16767101
[PubMed - indexed for MEDLINE]
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