OMIA:002288-9913 : Mandibulofacial dysostosis in Bos taurus (taurine cattle) |
Categories: Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608428 (gene) , 614974 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: Also known (in humans) as Focal facial dermal dysplasia 4
Species-specific symbol: MD
Molecular basis: Sieck et al. (2020): "Whole-genome sequencing (WGS) of 20 animals [including 3 affected calves] led to the discovery of a variant (Chr26 g. 14404993T>C) in Exon 3 of CYP26C1 associated with MD. This missense mutation (p.L188P), is located in an α helix of the protein, which the identified amino acid substitution is predicted to break"
Clinical features: Sieck et al. (2020): "In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and bilateral skin tags present 2–10 cm caudal to the commissure of the lips."
Breed:
Hereford (Cattle) (VBO_0000232).
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CYP26C1 | cytochrome P450, family 26, subfamily C, polypeptide 1 | Bos taurus | 26 | NC_037353.1 (14401823..14411376) | CYP26C1 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1251 | Hereford (Cattle) | Mandibulofacial dysostosis | CYP26C1 | missense | Naturally occurring variant | ARS-UCD1.2 | 26 | g.14404993T>C | c.563T>G | p.(L188P) | ENSBTAT00000056396.3:c.563T>G; ENSBTAP00000050244.2:p.Leu188Arg | rs431913023 | 2020 | 33105751 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002288-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2020 | Sieck, R.L., Fuller, A.M., Bedwell, P.S., Ward, J.A., Sanders, S.K., Xiang, S.H., Peng, S., Petersen, J.L., Steffen, D.J. : |
| Mandibulofacial dysostosis attributed to a recessive mutation of CYP26C1 in Hereford cattle. Genes (Basel) 11:1246, 2020. Pubmed reference: 33105751. DOI: 10.3390/genes11111246. |
Edit History
- Created by Frank Nicholas on 23 Oct 2020
- Changed by Frank Nicholas on 23 Oct 2020