{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:52:27Z","timestamp":1783698747502,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"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":"FRQS","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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1\/3000 and 1\/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in <jats:italic>MYH3<\/jats:italic> have been identified to cause the dominantly\u2010inherited distal arthrogryposis conditions, Freeman\u2013Sheldon syndrome, Sheldon\u2013Hall syndrome, and multiple pterygium syndrome. In contrast, <jats:italic>MYH3<\/jats:italic> variants underlie both dominantly and recessively inherited Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterized by extensive bony abnormalities in addition to congenital contractures. Here we report two affected sibs with distal arthrogryposis born to unaffected, distantly related parents. Sequencing revealed that both sibs were homozygous for two ultra\u2010rare <jats:italic>MYH3<\/jats:italic> variants, c.3445G&gt;A (p.Glu1149Lys) and c.4760T&gt;C (p.Leu1587Pro). Sequencing and deletion\/duplication analysis of 169 other arthrogryposis genes yielded no other compelling candidate variants. This is the first report of biallelic variants in <jats:italic>MYH3<\/jats:italic> being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in <jats:italic>MYH3<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/cge.14570","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T12:19:36Z","timestamp":1718021976000},"page":"483-487","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Bi\u2010allelic variants in <scp>MYH3<\/scp> cause recessively\u2010inherited arthrogryposis"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6918-6312","authenticated-orcid":false,"given":"Burcin","family":"Morali","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec 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Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3112-3017","authenticated-orcid":false,"given":"Peter","family":"Glavas","sequence":"additional","affiliation":[{"name":"Department of Orthopedics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-3826","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Audibert","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine University of Montreal  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7536-1666","authenticated-orcid":false,"given":"Nicolas A.","family":"Dumont","sequence":"additional","affiliation":[{"name":"CHU Sainte\u2010Justine Research Center  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1117-6124","authenticated-orcid":false,"given":"Julia","family":"Barone","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9647-0861","authenticated-orcid":false,"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[{"name":"Seattle Children's Hospital  Seattle Washington USA"},{"name":"Department of Pediatrics and Genome Sciences University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lemyre","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  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":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI84457"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.84"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.015"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00281"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32217"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.004"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep41803"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38593"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0513-0"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.007"}],"container-title":["Clinical 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