{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:25:29Z","timestamp":1789647929919,"version":"4.0.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T00:00:00Z","timestamp":1685059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lymphedema is a troubling condition present in many disorders including the rare genetic disorder known as Phelan\u2013McDermid syndrome (PMS). The neurobehavioral features of PMS, also known as 22q13.3 deletion syndrome, have been investigated, but little research exists on lymphedema in PMS. In this investigation, clinical and genetic data from 404 people with PMS were reviewed from the PMS\u2010International Registry revealing a prevalence of 5% with lymphedema. Lymphedema was reported in 1 out of 47 people (2.1%) with PMS due to a <jats:italic>SHANK3<\/jats:italic> variant and 19 out of 357 people (5.3%) with PMS due to 22q13.3 deletions. Lymphedema was more common among those in their teens or adulthood (<jats:italic>p<\/jats:italic>\u2009=\u20090.0011) and those with deletions &gt;4\u2009Mb. People with lymphedema had significantly larger deletions (mean 5.375\u2009Mb) than those without lymphedema (mean 3.464\u2009Mb, <jats:italic>p<\/jats:italic>\u2009=\u20090.00496). Association analysis identified a deletion of the <jats:italic>CELSR1<\/jats:italic> gene to be the biggest risk factor (OR\u2009=\u200912.9 95% CI [2.9\u201356.2]). Detailed assessment of 5 subjects identified all had deletions of <jats:italic>CELSR1<\/jats:italic>, developed symptoms of lymphedema starting at age 8 or older, and typically responded well to standard therapy. In conclusion, this is the largest assessment of lymphedema in PMS to date and our results suggest that individuals with deletions &gt;4\u2009Mb or those with <jats:italic>CELSR1<\/jats:italic> deletions should be assessed for lymphedema.<\/jats:p>","DOI":"10.1111\/cge.14364","type":"journal-article","created":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T09:25:32Z","timestamp":1685093132000},"page":"472-478","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Lymphedema is associated with <i>CELSR1<\/i> in <scp>Phelan\u2013McDermid<\/scp> syndrome"],"prefix":"10.1111","volume":"104","author":[{"given":"Marie S.","family":"Smith","sequence":"first","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara M.","family":"Sarasua","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Phelan","sequence":"additional","affiliation":[{"name":"Genetics Laboratory Florida Cancer Specialists &amp; Research Institute  Fort Myers Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,26]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"Phelan\u2013McDermid Syndrome. In: Adam MP, Ardinger HH, Pagon RA et al., eds. 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