{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T14:11:12Z","timestamp":1788963072563,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004948","name":"Astellas Pharma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004948","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Edema requires management tailored to its underlying etiology; however, in some cases the cause remains elusive. We describe a 79\u2010year\u2010old woman with lifelong unexplained peripheral edema. Comprehensive evaluation excluded common etiologies such as heart failure, renal dysfunction, and venous thrombosis. Whole\u2010genome sequencing identified a novel homozygous splice\u2010site variant (NM_018676.4:c.58+2T&gt;G) in the\n                    <jats:italic>thrombospondin\u20101 domain\u2013containing protein 1<\/jats:italic>\n                    (\n                    <jats:italic>THSD1<\/jats:italic>\n                    ) gene, which has previously been associated with non\u2010immune hydrops fetalis (NIHF). This report describes, to our knowledge, the first elderly patient with chronic peripheral edema harboring a likely pathogenic THSD1 variant, suggesting that THSD1\u2010related disease may, in rare instances, persist beyond the perinatal period and present into late adulthood. Although causality cannot be established definitively from a single case, the findings highlight the potential utility of genetic testing in adults with chronic unexplained edema.\n                  <\/jats:p>","DOI":"10.1111\/cge.70247","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T13:27:06Z","timestamp":1788960426000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Testing Unveils a Novel Thrombospondin\u20101 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79\u2010Year\u2010Old Woman"],"prefix":"10.1111","author":[{"given":"Eiko","family":"Amo","sequence":"first","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai 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Innovative Medicine Tohoku University Graduate School of Medicine  Sendai Japan"},{"name":"Tohoku Medical Megabank Organization Tohoku University  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Suto","sequence":"additional","affiliation":[{"name":"Department of Medical Science Tohoku University Graduate School of Biomedical Engineering  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sosuke","family":"Kinomura","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai 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Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Oe","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasuku","family":"Nagasawa","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7601-6557","authenticated-orcid":false,"given":"Koji","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1476-0794","authenticated-orcid":false,"given":"Takehiro","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6509-1706","authenticated-orcid":false,"given":"Mariko","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Tohoku University Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"Iwaki Yumoto Hospital  Iwaki 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Part A"},{"key":"e_1_2_9_9_1","doi-asserted-by":"crossref","DOI":"10.3390\/medicina59050894","article-title":"Current Concepts in the Management of Primary Lymphedema","volume":"59","author":"Senger J. B.","year":"2023","journal-title":"Medicina (Kaunas, Lithuania)"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1002\/ajmg.a.40424","article-title":"A Recessive Truncating Variant in Thrombospondin\u20101 Domain Containing Protein 1 Gene THSD1 Is the Underlying Cause of Nonimmune Hydrops Fetalis, Congenital Cardiac Defects, and Haemangiomas in Four Patients From a Consanguineous Family","volume":"176","author":"Abdelrahman H. A.","year":"2018","journal-title":"American Journal of Medical Genetics. 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Y.","year":"2024","journal-title":"BMC Nephrology"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70247","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70247","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T13:27:13Z","timestamp":1788960433000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,9]]},"references-count":12,"alternative-id":["10.1111\/cge.70247"],"URL":"https:\/\/doi.org\/10.1111\/cge.70247","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,9]]},"assertion":[{"value":"2025-12-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"cge.70247"}}