Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Investigative Ophthalmology & Visual Science2004Vol. 45(10), pp. 3683–3683
Citations Over TimeTop 10% of 2004 papers
Jill Yardley, Bart P. Leroy, Niki Hart‐Holden, B. A. Lafaut, Bart Loeys, Ludwine Messiaen, Rahat Perveen, M. Ashwin Reddy, Shomi S. Bhattacharya, Elias I. Traboulsi, Diana Baralle, Jean‐Jacques De Laey, Bernard Puech, Philippe Kestelyn, Anthony T. Moore, Forbes Manson, Graeme C. Black
Abstract
VMD2 encodes bestrophin, a transmembrane protein located at the basolateral membrane of the RPE, that is also mutated in Best macular dystrophy. We support that each heterozygous affected individual produces three bestrophin isoforms consisting of the wild type and two abnormal forms: one containing a missense substitution and the other an in-frame deletion. The data showed that VMD2 mutations caused defects of ocular patterning, supporting the hypothesized role for the RPE, and specifically VMD2, in the normal growth and development of the eye.
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