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
9 affiliations
- 1Department of Nephrology and Hypertension Tohoku University Hospital Sendai Japan
- 2Department of Pediatrics Tohoku University Graduate School of Medicine Sendai Japan
- 3Department of Pathology Tohoku University Hospital Sendai Japan
- 4Department of Rare Disease Genomics Tohoku University Graduate School of Medicine Sendai Japan
- 5Department of AI and Innovative Medicine Tohoku University Graduate School of Medicine Sendai Japan
- 6Tohoku Medical Megabank Organization Tohoku University Sendai Japan
- 7Department of Medical Science Tohoku University Graduate School of Biomedical Engineering Sendai Japan
- 8Iwaki Yumoto Hospital Iwaki Japan
- 9Miyagi Children's Hospital Sendai Japan
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.
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BibTeX
@article{amo2026genetic,
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}},
author = {Eiko Amo and Takafumi Toyohara and Naoya Saijo and Satoko Sato and Jun Takayama and Yoshiko Suto and Yuji Noguchi and Sosuke Kinomura and Yusuke Ishizuka and Shun Watanabe and Koichi Kikuchi and Rui Makino and Mai Yoshida and Yuji Oe and Tasuku Nagasawa and Koji Okamoto and Takehiro Suzuki and Mariko Miyazaki and Shinya Kawaguchi and Takashi Suzuki and Takaaki Abe and Shigeo Kure and Atsuo Kikuchi and Tetsuhiro Tanaka},
journal = {Clinical Genetics},
year = {2026},
month = sep,
doi = {10.1111/cge.70247},
url = {https://doi.org/10.1111/cge.70247},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - 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
AU - Eiko Amo
AU - Takafumi Toyohara
AU - Naoya Saijo
AU - Satoko Sato
AU - Jun Takayama
AU - Yoshiko Suto
AU - Yuji Noguchi
AU - Sosuke Kinomura
AU - Yusuke Ishizuka
AU - Shun Watanabe
AU - Koichi Kikuchi
AU - Rui Makino
AU - Mai Yoshida
AU - Yuji Oe
AU - Tasuku Nagasawa
AU - Koji Okamoto
AU - Takehiro Suzuki
AU - Mariko Miyazaki
AU - Shinya Kawaguchi
AU - Takashi Suzuki
AU - Takaaki Abe
AU - Shigeo Kure
AU - Atsuo Kikuchi
AU - Tetsuhiro Tanaka
PY - 2026
DA - 2026/09/09
JO - Clinical Genetics
DO - 10.1111/cge.70247
UR - https://doi.org/10.1111/cge.70247
AB - 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.
SN - 0009-9163
SN - 1399-0004
ER -