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Heterozygous gain\u2010of\u2010function variants in <jats:italic>PIEZO2<\/jats:italic> are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the presence of cleft palate (DA3), ptosis and restriction in eye movements (DA5), and specific facial abnormalities and central nervous system involvement, respectively. We report on a boy with a recurrent de novo heterozygous <jats:italic>PIEZO2<\/jats:italic> variant in exon 20 (NM_022068.3: c.2994G\u2009&gt;\u2009A, p.(Met998Ile); NM_001378183.1: c.3069G\u2009&gt;\u2009A, p.(Met1023Ile)), who presented at birth with DA and later developed respiratory insufficiency. His phenotype broadly fits the <jats:italic>PIEZO2<\/jats:italic> phenotypic spectrum and potentially extends it with novel phenotypic features of pretibial linear vertical crease, immobile skin, immobile tongue, and lipid myopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63019","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T12:00:04Z","timestamp":1667304004000},"page":"546-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Lethal respiratory course and additional features expand the phenotypic spectrum of <scp><i>PIEZO2<\/i><\/scp>\u2010related distal arthrogryposis type 5"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3892-1011","authenticated-orcid":false,"given":"Agata","family":"Oliwa","sequence":"first","affiliation":[{"name":"Undergraduate Medical School, College of Medical, Veterinary &amp; Life Sciences University of Glasgow  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Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Barnicoat","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Great Ormond Street Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7061-6837","authenticated-orcid":false,"given":"Millan S.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia 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