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

EN Vithana, P Morgan, P Sundaresan, ND Ebenezer… - Nature …, 2006 - nature.com
EN Vithana, P Morgan, P Sundaresan, ND Ebenezer, DTH Tan, MD Mohamed, S Anand…
Nature genetics, 2006nature.com
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.
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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