{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:43:42Z","timestamp":1791035022186,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T00:00:00Z","timestamp":1639094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD). It is caused by heterozygous pathogenic variants in the gene encoding Aggrecan; <jats:italic>ACAN<\/jats:italic>. Aggrecan, a proteoglycan, is an essential component of the articular and growth plate cartilage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Herein, we report three individuals from one family; the proband who presented with short stature, a lower limb bone exostosis, and bilateral knee and elbow OCD at the age of 13\u00a0years old. His twin brother presented with isolated short stature and his father with short stature and lumbar disc herniation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Next\u2010generation sequencing of the <jats:italic>ACAN<\/jats:italic> gene in the proband identified a frameshift variant which is also present in the brother and father with short stature. The proband was treated surgically with bilateral elbow microfracture, after the failure of conservative therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this is the first patient with an aggrecanopathy who presents with osteochondritis dissecans due to a frameshift variant. This family presents with variable expressivity which might be attributed to modifier genes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1773","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T06:53:27Z","timestamp":1639205607000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Variable expressivity in a family with an aggrecanopathy"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6248-8158","authenticated-orcid":false,"given":"Antoine","family":"Denis","sequence":"first","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Chergui","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-1082","authenticated-orcid":false,"given":"Shuaa","family":"Basalom","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9713-7107","authenticated-orcid":false,"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Janelle","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Pauyo","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_10_3_1","first-page":"181","article-title":"Elbow arthroscopy: Capitellar osteochondritis dissecans and radiocapitellar plica","volume":"60","author":"Ahmad C. 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