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

Eranga N Vithana; 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

doi:10.1038/ng1824

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

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

Affiliation

¹ Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. [email protected]

PMID: 16767101
DOI: 10.1038/ng1824

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 types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Anion Transport Proteins / genetics*
Anion Transport Proteins / metabolism
Antiporters / genetics*
Antiporters / metabolism
Borates / metabolism
Corneal Dystrophies, Hereditary / genetics*
Corneal Dystrophies, Hereditary / metabolism
Female
Fuchs' Endothelial Dystrophy / genetics
Fuchs' Endothelial Dystrophy / metabolism
Genes, Recessive
Humans
Male
Point Mutation*

Substances

Anion Transport Proteins
Antiporters
Borates
SLC4A11 protein, human