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Dominant gain of function (GoF) pathogenic variants in <jats:italic>PIEZO2<\/jats:italic> have been associated with several forms of arthrogryposis. Previous reports have focused on diagnosis and clinical features. We report a three\u2010generation family with four affected individuals with a known pathogenic GoF change p.(Glu2727del) in <jats:italic>PIEZO2<\/jats:italic>. All family members presented at birth with distal arthrogryposis and ophthalmoplegia but have varied in their subsequent clinical course with differences in mobility and joint restriction. In the longer term, other features have presented including dysphagia, back pain and spinal stenosis\u2010like symptoms, raised intraocular pressure, and progressive restrictive lung disease. As far as we know, this is the first report detailing the longitudinal follow\u2010up of a three\u2010generation family which highlights potential long\u2010term complications in patients with <jats:italic>PIEZO2<\/jats:italic>\u2010related arthrogryposis. We present this family to demonstrate the importance of long\u2010term follow\u2010up for the clinical management of this group of patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62868","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T07:50:15Z","timestamp":1655193015000},"page":"2790-2795","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i><scp>PIEZO2<\/scp>\u2010<\/i>related distal arthrogryposis type 5: Longitudinal follow\u2010up of a three\u2010generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0052-5507","authenticated-orcid":false,"given":"Charlotte A.","family":"Sherlaw\u2010Sturrock","sequence":"first","affiliation":[{"name":"West Midlands Regional Genetics Service Birmingham Women's and Children's NHS Foundation 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