OMIA:002239-9615 : Facial dysmorphia in Canis lupus familiaris (dog) |
Categories: Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 303600 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: no
Species-specific name: lethal brachycephalic-like facial dysmorphia
Inheritance: Dierks et al. (2017): "Pedigree analysis supported an X-linked recessive mode of inheritance."
Clinical features: Dierks et al. (2017): "Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival."
Pathology: Dierks et al. (2017): "Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination."
Breed:
Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002239-9615: 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.
2020 | Vasiliadis, D., Dierks, C., Hoffmann, H., Hellige, M., Hewicker-Trautwein, M., Metzger, J., Distl, O. : |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet 51:122-126, 2020. Pubmed reference: 31691328. DOI: 10.1111/age.12875. | |
2017 | Dierks, C., Hoffmann, H., Heinrich, F., Hellige, M., Hewicker-Trautwein, M., Distl, O. : |
Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J 220:48-50, 2017. Pubmed reference: 28190494. DOI: 10.1016/j.tvjl.2017.01.004. |
Edit History
- Created by Frank Nicholas on 31 Jan 2020
- Changed by Frank Nicholas on 31 Jan 2020
- Changed by Imke Tammen2 on 21 May 2022