{
  "abstract": "Edema requires management tailored to its underlying etiology; however, in some cases the cause remains elusive. We describe a 79‐year‐old woman with lifelong unexplained peripheral edema. Comprehensive evaluation excluded common etiologies such as heart failure, renal dysfunction, and venous thrombosis. Whole‐genome sequencing identified a novel homozygous splice‐site variant (NM_018676.4:c.58+2T>G) in the thrombospondin‐1 domain–containing protein 1 (THSD1) gene, which has previously been associated with non‐immune 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‐related 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Nephrology and Hypertension Tohoku University Hospital Sendai Japan",
    "Department of Pediatrics Tohoku University Graduate School of Medicine Sendai Japan",
    "Department of Pathology Tohoku University Hospital Sendai Japan",
    "Department of Rare Disease Genomics Tohoku University Graduate School of Medicine Sendai Japan",
    "Department of AI and Innovative Medicine Tohoku University Graduate School of Medicine Sendai Japan",
    "Tohoku Medical Megabank Organization Tohoku University Sendai Japan",
    "Department of Medical Science Tohoku University Graduate School of Biomedical Engineering Sendai Japan",
    "Iwaki Yumoto Hospital Iwaki Japan",
    "Miyagi Children's Hospital Sendai Japan"
  ],
  "article_type": "brief report",
  "arxiv": null,
  "author_total": 24,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Eiko Amo"
    },
    {
      "affs": [
        0
      ],
      "name": "Takafumi Toyohara",
      "orcid": "0000-0001-7655-3005"
    },
    {
      "affs": [
        1
      ],
      "name": "Naoya Saijo"
    },
    {
      "affs": [
        2
      ],
      "name": "Satoko Sato"
    },
    {
      "affs": [
        3,
        4,
        5
      ],
      "name": "Jun Takayama"
    },
    {
      "affs": [
        6
      ],
      "name": "Yoshiko Suto"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuji Noguchi"
    },
    {
      "affs": [
        0
      ],
      "name": "Sosuke Kinomura"
    },
    {
      "affs": [
        0
      ],
      "name": "Yusuke Ishizuka",
      "orcid": "0009-0003-5407-3985"
    },
    {
      "affs": [
        0
      ],
      "name": "Shun Watanabe",
      "orcid": "0000-0001-6506-2606"
    },
    {
      "affs": [
        0
      ],
      "name": "Koichi Kikuchi"
    },
    {
      "affs": [
        0
      ],
      "name": "Rui Makino"
    },
    {
      "affs": [
        0
      ],
      "name": "Mai Yoshida"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuji Oe"
    },
    {
      "affs": [
        0
      ],
      "name": "Tasuku Nagasawa"
    },
    {
      "affs": [
        0
      ],
      "name": "Koji Okamoto",
      "orcid": "0000-0002-7601-6557"
    },
    {
      "affs": [
        0
      ],
      "name": "Takehiro Suzuki",
      "orcid": "0000-0002-1476-0794"
    },
    {
      "affs": [
        0
      ],
      "name": "Mariko Miyazaki",
      "orcid": "0000-0001-6509-1706"
    },
    {
      "affs": [
        7
      ],
      "name": "Shinya Kawaguchi"
    },
    {
      "affs": [
        2
      ],
      "name": "Takashi Suzuki",
      "orcid": "0000-0003-0195-815X"
    },
    {
      "affs": [
        6
      ],
      "name": "Takaaki Abe",
      "orcid": "0000-0003-3170-4660"
    },
    {
      "affs": [
        1,
        3,
        8
      ],
      "name": "Shigeo Kure"
    },
    {
      "affs": [
        1,
        3
      ],
      "name": "Atsuo Kikuchi",
      "orcid": "0000-0003-1002-8739"
    },
    {
      "affs": [
        0
      ],
      "name": "Tetsuhiro Tanaka"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0mzmgcr4kn3hh.bib",
  "cited_by": 0,
  "doi": "10.1111/cge.70247",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13728965/",
  "id": "0mzmgcr4kn3hh",
  "issns": [
    "0009-9163",
    "1399-0004"
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  "landing_url": "https://doi.org/10.1111/cge.70247",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Short Report"
    ],
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      "1311|Genomics and Rare Diseases"
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  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70247",
  "pmcid": "PMC13728965",
  "pmid": "42714234",
  "published": "2026-09-09",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/0mzmgcr4kn3hh.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:21:48Z",
      "native_id": "PMC13728965",
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
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  ],
  "title": "Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman",
  "title_text": "Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:48Z",
  "url": "https://research.draconitic.com/paper/0mzmgcr4kn3hh",
  "venue": "Clinical Genetics",
  "versions": []
}