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Distal arthrogryposis type 5 (DA5) is clinically characterized by short stature, deep\u2010set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and \u201cfirm\u201d muscles. DA5 is produced by a gain\u2010of\u2010function mutations in <jats:italic>PIEZO2 gene<\/jats:italic>, encoding for an ion\u2010channel required to convert mechanical stimulus to biological signals in mammals essential to proprioception. Heterozygous mutations in <jats:italic>PIEZO2<\/jats:italic> may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, we present a 3\u2010generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A&gt;C (p.Ser2690Arg) in the <jats:italic>PIEZO2<\/jats:italic> gene. DA5 is a very rare condition with less than 20 cases previously reported. Our report expands the phenotype and contributes to evidence of this variant's pathogenicity.<\/jats:p>","DOI":"10.1002\/ajmg.a.61143","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T04:56:23Z","timestamp":1554180983000},"page":"1034-1041","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Distal arthrogryposis type 5 and <i>PIEZO2<\/i> novel variant in a Canadian family"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2636-8941","authenticated-orcid":false,"given":"Eugenio","family":"Zapata\u2010Aldana","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sulaiman B.","family":"Al\u2010Mobarak","sequence":"additional","affiliation":[{"name":"Paediatric Neurology 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