{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:54:11Z","timestamp":1790913251252,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","award":["79137"],"award-info":[{"award-number":["79137"]}],"id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Arthrogryposis multiplex congenita (AMC) is a group of conditions with congenital joint contractures in at least two body regions.\n                    <jats:italic>ACTC1<\/jats:italic>\n                    variants cause heart disorders but have also been reported in six families with AMC. We report on two individuals with AMC who were heterozygous for\n                    <jats:italic>ACTC1<\/jats:italic>\n                    missense variants (NM_005159.5; c.325G&gt;A, p.Glu109Lys and c.650A&gt;C, p.Lys217Thr). Individual 1 had scoliosis and no reported cardiac phenotype. Individual 2 had Shone's complex with coarctation of the aorta, which has not been reported in\n                    <jats:italic>ACTC1<\/jats:italic>\n                    \u2010related AMC before. In\u00a0vitro testing demonstrated that p.Glu109Lys caused impaired actin filament assembly and reduced ACTC1 protein levels, effects not apparent for p.Lys217Thr. Our findings characterize two novel variants that cause\n                    <jats:italic>ACTC1<\/jats:italic>\n                    \u2010related AMC and expand the list of phenotypes observed in this disorder.\n                  <\/jats:p>","DOI":"10.1111\/cge.70218","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T04:57:46Z","timestamp":1784177866000},"page":"584-589","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two Novel\n                    <scp>\n                      <i>ACTC1<\/i>\n                    <\/scp>\n                    Variants Cause Arthrogryposis Multiplex Congenita"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3492-3448","authenticated-orcid":false,"given":"Lauren","family":"Kerr","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Department of Human Genetics McGill University  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Moffatt","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Faculty of Dental Medicine and Oral Health Sciences McGill University  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3569-2513","authenticated-orcid":false,"given":"Lauren","family":"Hyer","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Greenville South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1191-074X","authenticated-orcid":false,"given":"Sarah","family":"Nossov","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8567-7173","authenticated-orcid":false,"given":"No\u00e9mi","family":"Dahan\u2010Oliel","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"School of Physical and Occupational Therapy, McGill University  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Department of Human Genetics McGill University  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14775"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2023.100213"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31739"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14490"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1155\/2024\/6496088"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102021\u2010060591"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.4792"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2025.111816"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.235"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23042148"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010012\u20101030\u20105"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23084465"}],"container-title":["Clinical 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