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

✍ Scribed by Morgan, Patricio; Sundaresan, Periasamy; Ebenezer, Neil D; Tan, Donald T H; Mohamed, Moin D; Anand, Seema; Khine, Khin O; Venkataraman, Divya; Yong, Victor H K; Vithana, Eranga N

Book ID: 109919388
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 165 KB
Volume: 38
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1824

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✦ Synopsis

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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