OMIA:002135-9913 : Arthrogryposis multiplex congenita, AGRN-related in Bos taurus (taurine cattle)

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s) (MIM number): 103320 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Bovine Hereditary Arthrogyposis Multiplex Congentia

Species-specific symbol: BHAC

Species-specific description: Also known as Curly Calf Syndrome

History: The first case in the USA was reported to Dr David Steffen (University of Nebraska) in 2002. The next report was in 2006, followed by an increasing number in the following years. By September, 48 cases had been reported to Dr Jon Beever, who subsequently developed a DNA test.

Molecular basis: Deletion: a 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: In the words of Dr David Steffen, in an article posted on the AAA website on 5th September 2008, "The spine is bent and twisted in affected calves. The calves are small and appear thin due to limited muscle development. Legs are often rigid and may be hyperextended {common in rear limbs) or contracted. In some cases the rigid limbs result in calving difficulties." [http://www.angus.org/index.html; accessed 14 October 2008]

Genetic testing: The causal mutation described above, upon which a DNA test is based, was patented in 2009 and published in 2011 (Beever and Marron, 2011).

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AGRN agrin Bos taurus 16 NC_037343.1 (51461881..51422630) AGRN 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.

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
934 Angus (Cattle) Arthrogryposis multiplex congenita, AGRN-related AGRN deletion, gross (>20) Naturally occurring variant 16 A 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011) 2011 Reference not in PubMed; see OMIA 002135-9913 for reference details

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:002135-9913: 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.

2021 Konovalova, E., Romanenkova, O., Kostyunina, O., Gladyr, E. :
The molecular bases study of the inherited diseases for the health maintenance of the beef cattle. Genes (Basel) 12:678, 2021. Pubmed reference: 33946496. DOI: 10.3390/genes12050678.
2020 Konovalova, EN., Romanenkova, OS., Volkova, VV., Kostyunina, OV. :
DNA analysis of the Russian populations of Aberdeen Angus, Hereford and Belgian Blue cattle Arch Anim Breed 63:409-416, 2020. DOI: 10.5194/aab-63-409-2020.
2012 Windsor, P., Kessell, A., Finnie, J. :
Corrigendum to: Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle Australian Veterinary Journal 90:28 only, 2012.
2011 Beever, J.E., Marron, B.M. :
Screening for arthrogryposis multiplex in bovines. US Patent 20110151440 A1 , 2011.
Windsor, P., Kessell, A., Finnie, J. :
Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle. Aust Vet J 89:394-401, 2011. Pubmed reference: 21933167. DOI: 10.1111/j.1751-0813.2011.00826.x.

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  • Created by Frank Nicholas on 15 Dec 2017
  • Changed by Frank Nicholas on 15 Dec 2017
  • Changed by Frank Nicholas on 21 Aug 2019