Ontology highlight
ABSTRACT:
SUBMITTER: Velez G
PROVIDER: S-EPMC5983175 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Velez Gabriel G Bassuk Alexander G AG Schaefer Kellie A KA Brooks Brian B Gakhar Lokesh L Mahajan MaryAnn M Kahn Philip P Tsang Stephen H SH Ferguson Polly J PJ Mahajan Vinit B VB
Cold Spring Harbor molecular case studies 20180601 3
Mutations that activate the protease calpain-5 (<i>CAPN5)</i> 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 <i>CAPN5</i> missense mutation (c.865C>T, p.Arg289Trp) that shows greater hyperactivation of t ...[more]