Nature genetics 38, 755 - 757 (2006)
Published online: 11 June 2006; | doi:10.1038/ng1824
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)Eranga N Vithana1, 2, 13, Patricio Morgan3, 13, Periasamy Sundaresan4, 13, Neil D Ebenezer5, Donald T H Tan1, 2, 6, Moin D Mohamed7, 8, Seema Anand8, Khin O Khine9, Divya Venkataraman1, Victor H K Yong1, Manuel Salto-Tellez10, Anandalakshmi Venkatraman1, Ke Guo11, Boomiraj Hemadevi4, Muthiah Srinivasan4, Venkatesh Prajna4, Myint Khine9, Joseph R Casey3, 12, Chris F Inglehearn7 & Tin Aung1, 2, 61
Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. 2
Department of Ophthalmology, Yong Soo Lin School of Medicine, National University of Singapore, Singapore 117597. 3
Department of Physiology, University of Alberta, Edmonton, Alberta T6G 2H7, Canada. 4
Aravind Medical Research Foundation, Madurai 625020, India. 5
Institute of Ophthalmology, University College London, London EC 1V 9EL, UK. 6
Singapore National Eye Centre, Singapore 168751. 7
Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds LS9 7TF, UK. 8
Eye Department, St. James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds LS9 7TF, UK. 9
Yangon Eye Hospital, 30 Natmauk Road, Yangon, Myanmar. 10
Department of Pathology, National University of Singapore, Singapore 117597. 11
Institute of Molecular and Cell Biology, Singapore 138673. 12
Department of Biochemistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada. 13
These authors contributed equally to this work.
Correspondence should be addressed to Eranga N Vithana evithana@yahoo.co.uk 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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