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We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo <jats:italic>CAPN5<\/jats:italic> missense mutation (c.865C&gt;T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype\u2013phenotype correlation that links mutation severity to proteolytic activity and the possibility of earlier onset syndromic disease with auditory and neurological abnormalities.<\/jats:p>","DOI":"10.1101\/mcs.a002519","type":"journal-article","created":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T01:35:20Z","timestamp":1519349720000},"page":"a002519","source":"Crossref","is-referenced-by-count":25,"title":["A novel de novo <i>CAPN5<\/i> mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay"],"prefix":"10.1101","volume":"4","author":[{"given":"Gabriel","family":"Velez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander G.","family":"Bassuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kellie A.","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lokesh","family":"Gakhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MaryAnn","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Kahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polly J.","family":"Ferguson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinit B.","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2018,2,22]]},"reference":[{"key":"2021112506145755000_4.3.a002519.1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"2021112506145755000_4.3.a002519.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2005.03.052"},{"key":"2021112506145755000_4.3.a002519.3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0122352"},{"key":"2021112506145755000_4.3.a002519.4","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20120921"},{"key":"2021112506145755000_4.3.a002519.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"2021112506145755000_4.3.a002519.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2006.11.037"},{"key":"2021112506145755000_4.3.a002519.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00214-2"},{"key":"2021112506145755000_4.3.a002519.8","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4870"},{"key":"2021112506145755000_4.3.a002519.9","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.jsb.2016.07.017","article-title":"Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains","volume":"196","year":"2016","journal-title":"J Struct Biol"},{"key":"2021112506145755000_4.3.a002519.10","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s13039-015-0157-0","article-title":"A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms","volume":"8","year":"2015","journal-title":"Mol Cytogenet"},{"key":"2021112506145755000_4.3.a002519.11","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.024190"},{"key":"2021112506145755000_4.3.a002519.12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"2021112506145755000_4.3.a002519.13","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2021112506145755000_4.3.a002519.14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003001"},{"key":"2021112506145755000_4.3.a002519.15","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"2021112506145755000_4.3.a002519.16","first-page":"288","article-title":"Genetic testing in patients with global developmental delay\/intellectual disabilities. 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