{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T05:35:27Z","timestamp":1781242527691,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T00:00:00Z","timestamp":1560816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A whole exome sequencing approach was recently used to detect a <jats:italic>CELSR1<\/jats:italic> truncating variant associated with lymphedema in a large pedigree. Since this first report, no other similar associations have been reported in the literature. Here, we present the genetic results of 95 probands tested using a next generation sequencing panel that covered all known lymphedema\u2010associated genes, including <jats:italic>CELSR1<\/jats:italic>. Five out of 95 probands (5.3%) were found to carry novel loss\u2010of\u2010function variants in <jats:italic>CELSR1<\/jats:italic>. Family segregation studies were possible in four out of five probands and showed possible sex\u2010specific differences: <jats:italic>CELSR1<\/jats:italic> variants showed almost complete penetrance in females and were associated with early\u2010onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition. Since the percentage of lymphedema patients carrying <jats:italic>CELSR1<\/jats:italic> variants is not negligible, we do not hesitate to recommend including this gene in routine genetic testing.<\/jats:p>","DOI":"10.1002\/ajmg.a.61269","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T09:51:24Z","timestamp":1560937884000},"page":"1718-1724","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Increasing evidence of hereditary lymphedema caused by <i>CELSR1<\/i> loss\u2010of\u2010function variants"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1974-4937","authenticated-orcid":false,"given":"Paolo E.","family":"Maltese","sequence":"first","affiliation":[{"name":"MAGI's Lab  Rovereto Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Michelini","sequence":"additional","affiliation":[{"name":"Rehabilitation Department San Giovanni Battista Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ricci","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine Azienda Ospedaliero\u2010Universitaria, Ospedali Riuniti di Ancona  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[{"name":"Clinical Pediatric Genetics Unit, Pediatrics Clinic Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Rehabilitation Department San Giovanni Battista Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Serrani","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine Azienda Ospedaliero\u2010Universitaria, Ospedali Riuniti di Ancona  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Lazzerotti","sequence":"additional","affiliation":[{"name":"Clinical Pediatric Genetics Unit, Pediatrics Clinic Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Bruson","sequence":"additional","affiliation":[{"name":"MAGI's Lab  Rovereto Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Paolacci","sequence":"additional","affiliation":[{"name":"MAGI's Lab  Rovereto Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Benedetti","sequence":"additional","affiliation":[{"name":"MAGI's Lab  Rovereto Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Bertelli","sequence":"additional","affiliation":[{"name":"MAGI's Lab  Rovereto 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