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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

✍ Scribed by Marcia J. Simovich; Beverly Miller; Hany Ezzeldin; Bryan T. Kirkland; Genevieve McLeod; Chere Fulmer; Jeremy Nathans; Samuel G. Jacobson; Steven J. Pittler

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 23 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1168

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✦ Synopsis

Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for ~10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients.

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