OMIA 001951-9913 : Vertebral and spinal dysplasia in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615709

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

History: This disorder was first reported by Kromik et al. (2015; Vet. J.).

Inheritance: Kromi et al. (2015; Vet. J.) provided evidence of dominant inheritance with incomplete penetrance.

Molecular basis: Kromik et al. (2015; Genetics): c.196A>G; p.66Lys>Glu; NM_001192985.1

Clinical features: As reported by Kromik et al. (2015; Vet. J.), the disorder "is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis)."

Genetic testing: Kromik et al. (2015; Vet. J.) report that a DNA test, based on the causal mutation (see above), is available.

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
T T brachyury transcription factor Bos taurus 9 NC_037336.1 (101160469..101151142) T Homologene, 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.

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
Holstein Vertebral and spinal dysplasia T missense UMD3.1 9 g.102675827A>G c.196A>G p.K66E 2015 25614605 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2015 Kromik, A., Kusenda, M., Tipold, A., Stein, V.M., Rehage, J., Weikard, R., Kühn, C. :
Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle. Vet J 204:287-92, 2015. Pubmed reference: 25862397. DOI: 10.1016/j.tvjl.2015.03.013.
Kromik, A., Ulrich, R., Kusenda, M., Tipold, A., Stein, V.M., Hellige, M., Dziallas, P., Hadlich, F., Widmann, P., Goldammer, T., Baumgärtner, W., Rehage, J., Segelke, D., Weikard, R., Kühn, C. :
The Mammalian Cervical Vertebrae Blueprint Depends on the T (brachyury) Gene. Genetics 199:873-83, 2015. Pubmed reference: 25614605. DOI: 10.1534/genetics.114.169680.

Edit History


  • Created by Frank Nicholas on 16 Apr 2015
  • Changed by Frank Nicholas on 16 Apr 2015