OMIA 002288-9913 : Mandibulofacial dysostosis in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 608428

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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.

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 (14403428..14411708) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Hereford Mandibulofacial dysostosis CYP26C1 missense ARS-UCD1.2 26 g.14404993T>C p.(L188P) ss7148511443 2020 33105751

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 <i>CYP26C1</i> 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