OMIA:000628-9615 : Marfan syndrome, FBN1-related in Canis lupus familiaris (dog) |
In other species: pig , taurine cattle , rabbit
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 154700 (trait) , 134797 (gene) , 604308 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Lennertz et al. (2026) identified a likely causal variant in an affected Golden Retriever by whole genome sequencing analyis: " a 3618 base pair deletion encompassing exon 24 of the FBN1 gene on 1 allele was detected (NC_049251.1:g.14998228_15001846del) [omia.variant1936], likely causing an in-frame deletion in the coding sequence."
Clinical features: Lennertz et al. (2026): "a 10-month-old Golden Retriever presented with signs of possible connective tissue disorder. ... [The dog] had clinical signs of cardiac enlargement, pneumothorax, and joint hypermobility.
Breeds:
English Bulldog (Dog) (VBO_0200485),
Golden Retriever (Dog) (VBO_0200610),
Great Dane (Dog) (VBO_0200623),
Newfoundland (Dog) (VBO_0200938),
Siberian Husky (Dog) (VBO_0201233).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FBN1 | fibrillin 1 | Canis lupus familiaris | 30 | NC_051834.1 (14998080..14774842) | FBN1 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1936 | Golden Retriever (Dog) | Marfan syndrome | FBN1 | delins, gross (>20) | deletion (in-frame) | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 30 | NC_049251.1:g.14998228_15001846del) | NM_001287085.1:c.2854+343_3083-73del | NP_001274014.1:p.(R954_I1029del) | a 3618 bp deletion encompassing exon 24, predicted to cause an in-frame deletion | 2026 | 42815455 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:000628-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2026 | Lennertz, H.T., McClosky, M.E., Fuentes, M.D.M., Niggel, J.K., Casal, M.L., Murgiano, L. : |
| Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy. J Vet Intern Med 40:aalag222, 2026. Pubmed reference: 42815455. DOI: 10.1093/jvimsj/aalag222. | |
| 2025 | Bilgiç, B., Koenhemsi, L., Pugliese, M., Altındal, A., Or, M.E. : |
| Case Report: Skeletal and cardiovascular alterations compatible with a connective tissue disorder in an elderly dog. Front Vet Sci 12:1662596, 2025. Pubmed reference: 41394904. DOI: 10.3389/fvets.2025.1662596. | |
| Bilgiç, B., Koenhemsi, L., Pugliese, M., Altindal, A., Or, M.E. : | |
| Correction: Case Report: Skeletal and cardiovascular alterations compatible with a connective tissue disorder in an elderly dog. Front Vet Sci 12:1768165, 2025. Pubmed reference: 41602627. DOI: 10.3389/fvets.2025.1768165. | |
| 2021 | [No authors listed] : |
| Correction notice. Vet Q 41:320, 2021. Pubmed reference: 34872464. DOI: 10.1080/01652176.2021.2005234. | |
| Côté, E., Zhang, R.M., Kaiser, N., Reinhardt, D.P., Martin, C.K. : | |
| Annuloaortic ectasia in a four-month-old male Newfoundland dog: long-term follow-up and immunofluorescent study. Vet Q 41:280-291, 2021. Pubmed reference: 34607531. DOI: 10.1080/01652176.2021.1961039. | |
| 2018 | Biasato, I., Zanatta, R., Maniscalco, L., Evangelista, R., Iotti, B., Iussich, S. : |
| Left subclavian artery dissection associated with connective tissue abnormalities resembling Marfan-like syndrome in an English bulldog. J Vet Cardiol 20:S1760-2734(17)30003-6:136-142, 2018. Pubmed reference: 29519682. DOI: 10.1016/j.jvc.2018.02.001. | |
| 2015 | Lenz, J.A., Bach, J.F., Bell, C.M., Stepien, R.L. : |
| Aortic tear and dissection related to connective tissues abnormalities resembling Marfan syndrome in a Great Dane. J Vet Cardiol 17:S1760-2734(15)00017-X:134-41, 2015. Pubmed reference: 25890485. DOI: 10.1016/j.jvc.2015.01.001. | |
| Scansen, B.A., Simpson, E.M., López-Alvarez, J., Thomas, W.P., Bright, J.M., Eason, B.D., Rush, J.E., Dukes-McEwan, J., Green, H.W., Cunningham, S.M., Visser, L.C., Kent, A.M., Schober, K.E. : | |
| Pulmonary artery dissection in eight dogs with patent ductus arteriosus. J Vet Cardiol 17:S1760-2734(14)00083-6:107-19, 2015. Pubmed reference: 25596918. DOI: 10.1016/j.jvc.2014.12.001. | |
| 1976 | Eyster, G.E., Anderson, L.K., Cords, G.B. : |
| Aortic regurgitation in the dog. J Am Vet Med Assoc 168:138-41, 1976. Pubmed reference: 1245454. |
Edit History
- Created by Imke Tammen on 05 Jan 2026
- Changed by Imke Tammen on 02 Oct 2026