A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Cold Spring Harbor Molecular Case Studies
Gabriel VelezVinit B Mahajan

Abstract

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.

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Citations

Jan 19, 2019·Investigative Ophthalmology & Visual Science·Peter H TangVinit B Mahajan
Apr 16, 2019·Ocular Immunology and Inflammation·Ghazala O'KeefeNieraj Jain
Aug 14, 2019·Human Mutation·Katherine J WertVinit B Mahajan
Jun 6, 2020·NAR Genomics and Bioinformatics·Mengge ZhaoKai Wang
May 22, 2019·Scientific Reports·Gabriel VelezVinit B Mahajan
Jul 22, 2018·Investigative Ophthalmology & Visual Science·Cagney E Coomer, Ann C Morris
Feb 6, 2021·Biochimica Et Biophysica Acta. Proteins and Proteomics·Simone SpinozziIsabelle Richard
Jul 25, 2020·American Journal of Ophthalmology·Angela S LiVinit B Mahajan

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Software Mentioned

PolyPhen
UCSF Chimera
ESPript
ClinVar
GnoMAD
Geneious R10
SIFT
MODELLER
XomeDx
Ensembl Variant Effect Predictor ( VEP )

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