A homozygous hypomorphic FBN1 splice region variant in domes…
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- DOI 10.1038/s41598-026-70702-3
- OpenAlex ID W7213617164
- Type Article
- Language EN
- Published 19 Sep 2026
- Source Scientific Reports
- Publisher Nature Portfolio
- Countries 3
- Institutions 8
- Added 20 Sep 2026
- Updated 28 Oct 2026
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A homozygous hypomorphic FBN1 splice region variant in domestic cats with Marfan syndrome
Article 2026 EN Gold
Marfan syndrome (MFS) is an autosomal dominant connective tissue disease caused by variants in the fibrillin 1 ( FBN1 ) gene. While common in humans, spontaneous animal models are rarely reported. We present the first phenotypic and molecular characterization of MFS in domestic cats. A pair of random-bred littermates exhibited bilateral lens luxation and aortic root dilation, the cardinal features…
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11 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Shawna R. Cook | Cornell University (US) New York State College of Vete… (US) | |
| 2 | Jessica J. Hayward | Cornell University (US) New York State College of Vete… (US) | |
| 3 | Soon Hon Cheong | Cornell University (US) New York State College of Vete… (US) | |
| 4 | Linda Impe | Ghent University (BE) | — |
| 5 | Ian R. Porter | Cornell University (US) New York State College of Vete… (US) | |
| 6 | Brian LaMendola | Oregon National Primate Resear… (US) Oregon Health & Science Univer… (US) +2 | — |
| 7 | Gavin R. Hitchener | Cornell University (US) New York State College of Vete… (US) | |
| 8 | Urs Giger | University of Zurich (CH) University of Pennsylvania (US) | |
| 9 | Philip R. Fox | The Schwarzman Animal Medical … (US) | |
| 10 | Jacquelyn M. Evans Corresponding | Cornell University (US) New York State College of Vete… (US) | |
| 11 | Bart J. G. Broeckx Corresponding | Ghent University (BE) |
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