OMIA 002135-9913 : Arthrogryposis multiplex congenita, AGRN-related in Bos taurus

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. Further information is available from http://www.agrigenomicsinc.com/species.html

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)

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AGRN agrin Bos taurus 16 NC_037343.1 (51461933..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 required column headers

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
Angus Arthrogryposis multiplex congenita, AGRN-related AGRN deletion, gross (>20) 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

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.
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.

Edit History


  • Created by Frank Nicholas on 15 Dec 2017
  • Changed by Frank Nicholas on 15 Dec 2017