Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
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.
Vithana
Eranga N
EN
Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. evithana@yahoo.co.uk
Morgan
Patricio
P
Sundaresan
Periasamy
P
Ebenezer
Neil D
ND
Tan
Donald T H
DT
Mohamed
Moin D
MD
Anand
Seema
S
Khine
Khin O
KO
Venkataraman
Divya
D
Yong
Victor H K
VH
Salto-Tellez
Manuel
M
Venkatraman
Anandalakshmi
A
Guo
Ke
K
Hemadevi
Boomiraj
B
Srinivasan
Muthiah
M
Prajna
Venkatesh
V
Khine
Myint
M
Casey
Joseph R
JR
Inglehearn
Chris F
CF
Aung
Tin
T
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
D027321:Anion Transport Proteins; D017920:Antiporters; D001881:Borates; C425809:SLC4A11 protein, human