Article
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Investigative ophthalmology & visual science - 1 Oct 2004
Yardley Jill, Leroy Bart P, Hart-Holden Niki, Lafaut Bart A, Loeys Bart, Messiaen Ludwine M, Perveen Rahat, Reddy M Ashwin, Bhattacharya Shomi S, Traboulsi Elias, Baralle Diana, De Laey Jean-Jacques, Puech Bernard, Kestelyn Philippe, Moore Anthony T, Manson Forbes D C, Black Graeme C M
Abstract excerpt
PURPOSE: To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. METHODS: A combination of linkage analysis and DNA sequencing in five families was used to identify disease-causing mutations in VMD2. The effect of these mutations on splicing was assessed using...
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