Article
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Cold Spring Harbor molecular case studies - 1 Jun 2018
Velez Gabriel, Bassuk Alexander G, Schaefer Kellie A, Brooks Brian, Gakhar Lokesh, Mahajan MaryAnn, Kahn Philip, Tsang Stephen H, Ferguson Polly J, Mahajan Vinit B
Abstract excerpt
Mutations that activate the protease calpain-5 (CAPN5) cause a nonsyndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo CAPN5 missense...
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