In:
Molecular Case Studies, Cold Spring Harbor Laboratory, Vol. 4, No. 3 ( 2018-06), p. a002519-
Kurzfassung:
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 mutation (c.865C 〉 T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype–phenotype correlation that links mutation severity to proteolytic activity and the possibility of earlier onset syndromic disease with auditory and neurological abnormalities.
Materialart:
Online-Ressource
ISSN:
2373-2865
,
2373-2873
Sprache:
Englisch
Verlag:
Cold Spring Harbor Laboratory
Publikationsdatum:
2018
ZDB Id:
2835759-0