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

E.N. Vithana, P. Morgan, P. Sundaresan, N. D. Ebenezer, D.T.H. Tan, M.D. Mohamed, S. Anand, K.O. Khine, D. Venkataraman, V.H.K. Yong, Manuel Salto-Tellez, A. Venkatraman, K. Guo, B. Hemadevi, M. Srinivasan, V. Prajna, M. Khine, J.R. Casey, C.F. Inglehearn, T. Aung

Research output: Contribution to journalArticlepeer-review

181 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)755-757
Number of pages3
JournalNature Genetics
Volume38
Issue number7
DOIs
Publication statusPublished - Jul 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)'. Together they form a unique fingerprint.

Cite this