{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T06:48:02Z","timestamp":1745304482951},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>Primary lymphedema of the upper extremity is rare and often is associated with syndromic or generalized lymphedema. The purpose of the study was to identify novel causes for primary lymphedema of the arm. A 17-year-old healthy male with right upper extremity swelling since infancy was confirmed to have lymphedema by lymphoscintigraphy. He subsequently developed right leg disease in adolescence and his mother had lower extremity lymphedema as well. Whole-exome sequencing of genomic DNA from the subject identified a frameshift deletion resulting in a premature stop codon in exon 3 of the <jats:italic toggle=\"yes\">CELSR1<\/jats:italic> gene hg19: chr22:46,835,160_46,835,166del (<jats:italic toggle=\"yes\">c.4326_4332del<\/jats:italic>; p.T1443Gfs*14). The variant was confirmed in the patient and his mother by Sanger sequencing. A novel variant in <jats:italic toggle=\"yes\">CELSR1<\/jats:italic> causes nonsyndromic upper extremity lymphedema; other variants in this gene previously have been associated with lower extremity disease.<\/jats:p>","DOI":"10.1097\/jova.0000000000000041","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T22:02:00Z","timestamp":1650060120000},"page":"e041","update-policy":"http:\/\/dx.doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant"],"prefix":"10.1097","volume":"3","author":[{"given":"Christopher L.","family":"Sudduth","sequence":"first","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema ProgramBoston Children\u2019s Hospital, Harvard Medical School, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick J.","family":"Smits","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema ProgramBoston Children\u2019s Hospital, Harvard Medical School, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu Sheng","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema ProgramBoston Children\u2019s Hospital, Harvard Medical School, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Schmitz-Abe","sequence":"additional","affiliation":[{"name":"Divisions of Newborn Medicine and Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Divisions of Newborn Medicine and Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arin K.","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema ProgramBoston Children\u2019s Hospital, Harvard Medical School, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"R1-20240825","first-page":"206","article-title":"Primary lymphedema in children and adolescents: a follow-up study and review.","volume":"76","author":"Smeltzer","year":"1985","journal-title":"Pediatrics"},{"key":"R2-20240825","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1089\/lrb.2017.0085","article-title":"Primary lymphedema of the upper extremities: clinical and lymphoscintigraphic features in 23 patients.","volume":"17","author":"Goss","year":"2019","journal-title":"Lymphat Res 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