{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:34:51Z","timestamp":1781706891717,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,11,18]],"date-time":"2018-11-18T00:00:00Z","timestamp":1542499200000},"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":[[2018,12]]},"abstract":"<jats:p>Hennekam lymphangiectasia\u2013lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations in <jats:italic>CCBE1<\/jats:italic> (collagen\u2010 and calcium\u2010binding epidermal growth factor domain\u2010containing protein 1) (HKLLS1; OMIM 235510) or <jats:italic>FAT4<\/jats:italic> (HKLLS2; OMIM 616006). CCBE1 acts via ADAMTS3 (a disintegrin and metalloprotease with thrombospondin motifs\u20103 protease) to enhance vascular endothelial growth factor C signaling. There is report of one family supporting mutations in <jats:italic>ADAMTS3<\/jats:italic> as causative for the phenotype labeled as HKLLS3. Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of <jats:italic>ADAMTS3<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.40633","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T05:35:37Z","timestamp":1542605737000},"page":"2858-2861","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["An additional case of Hennekam lymphangiectasia\u2013lymphedema syndrome caused by loss\u2010of\u2010function mutation in <i>ADAMTS3<\/i>"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Texas Southwestern Medical Center  Dallas Texas, USA"},{"name":"Department of Pathology University of Texas Southwestern Medical Center  Dallas Texas, USA"},{"name":"Department of Pediatrics Parkland Health and Hospital System  Dallas Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan T.","family":"Sweed","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Texas Southwestern Medical Center  Dallas Texas, USA"},{"name":"Department of Pathology Parkland Health and Hospital System  Dallas Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles F.","family":"Timmons","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Texas Southwestern Medical Center  Dallas Texas, USA"},{"name":"Department of Pathology Parkland Health and Hospital System  Dallas Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica D.","family":"Smith","sequence":"additional","affiliation":[{"name":"Ambry Genetics Aliso Viejo  California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy 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