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New CAPN5 Mutation Causes Pediatric Syndrome

Mar 16 2018

Posted In:

20/20 Blog

Mutations in the CAPN5 gene cause a rare inflammatory eye disease, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV). We recently discovered a novel CAPN5 mutation (c.865C>T, p.Arg289Trp) in a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay. This is the first described case of a CAPN5 mutation in patient with disease outside the eye. Structural modeling and enzymatic assays show the mutation shows greater hyperactivation of the calpain protease, indicating a genotype-phenotype correlation that links mutation severity to proteolytic activity.