title: Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
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.
authors.affiliation: Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. evithana@yahoo.co.uk
authors.forename: Eranga N
authors.initials: EN
authors.lastname: Vithana
authors.forename: Patricio
authors.initials: P
authors.lastname: Morgan
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
authors.forename: Donald T H
authors.initials: DT
authors.lastname: Tan
authors.forename: Moin D
authors.initials: MD
authors.lastname: Mohamed
authors.forename: Seema
authors.initials: S
authors.lastname: Anand
authors.forename: Khin O
authors.initials: KO
authors.lastname: Khine
authors.forename: Divya
authors.initials: D
authors.lastname: Venkataraman
authors.forename: Victor H K
authors.initials: VH
authors.lastname: Yong
authors.forename: Manuel
authors.initials: M
authors.lastname: Salto-Tellez
authors.forename: Anandalakshmi
authors.initials: A
authors.lastname: Venkatraman
authors.forename: Ke
authors.initials: K
authors.lastname: Guo
authors.forename: Boomiraj
authors.initials: B
authors.lastname: Hemadevi
authors.forename: Muthiah
authors.initials: M
authors.lastname: Srinivasan
authors.forename: Venkatesh
authors.initials: V
authors.lastname: Prajna
authors.forename: Myint
authors.initials: M
authors.lastname: Khine
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Casey
authors.forename: Chris F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: Tin
authors.initials: T
authors.lastname: Aung
mesh_terms: D019943:Amino Acid Substitution; D027321:Anion Transport Proteins / Q000235:genetics* / Q000378:metabolism; D017920:Antiporters / Q000235:genetics* / Q000378:metabolism; D001881:Borates / Q000378:metabolism; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D017354:Point Mutation
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D001881:Borates; C425809:SLC4A11 protein, human