OMIA 001511-9913 : Contractural arachnodactyly (Fawn calf syndrome) in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 121050

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Species-specific name: Fawn calf syndrome

Mapping: In a conference paper, Tammen et al. (2011) reported that CA was mapped to bovine chromosome 21 in a target region of ~3.4 Mb.

Molecular basis: In a conference paper, Denholm et al. (2014) reported that "The causal mutation in CA was identified as a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene on bovine chromosome 21."

Clinical features: A summary of current knowledge of this disorder in Australia is provided by Denholm (2010). Information on the disorder in the USA is available from http://www.angus.org/pub/CA/CAInfo.aspx.

In a corrigendum to Windsor et al. (2011), Windsor et al. (2012) stated "Readers should note that although contractural arachnodactyly or fawn calf syndrome has been included in the table of neurogenetic disorders of cattle, current evidence (as explained in the text on arthrogryposis) suggests that it is most probably not a primary neuropathy but a myopathy. It was included in the table as it emerged as a differential diagnosis for arthrogryposis in neonatal Angus and Murray Grey calves and their crosses."

Genetic testing: A DNA test has been developed by Dr Jon Beever, Dept of Animal Sciences, University of Illinois. Further information is available from http://www.agrigenomicsinc.com/species.html

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ADAMTSL3 ADAMTS like 3 Bos taurus 21 NC_037348.1 (24493260..24111437) ADAMTSL3 Homologene, Ensembl, NCBI gene

Variants

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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 Contractual arachnodactyly (Fawn calf syndrome) ADAMTSL3 deletion, gross (>20) 21 "a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene" 2014 Reference not in PubMed; see OMIA 001511-9913 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.
2014 Denholm, L.J., Beever, J.E., Marron, B.M., Walker, K.H., Healy, P.J., Dennis, J.A., O'Rourke, B.A., Teseling, T.F. :
Contractural Arachnodactyly (CA): A congenital recessive marfanoid syndrome with reduced elasticity of muscle connective tissue resulting from a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene in Angus and Angus influenced cattle breeds. Proc. XXVIII World Buiatrics Congress, Cairns Australia :Abstract 0305, 2014.
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 Tammen, I., Khatkar, M.S., Cavanagh, J.A.L., Windsor, P.A., Thomson, P.C., Raadsma, H.W. :
Mapping of congenital contractural arachnodactyly in cattle. Proceedings of the Association for the Advancement of Animal Breeding and Genetics 19:215-218, 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.
2010 Denholm, L :
Congenital contractural arachnodactyly ("fawn calf syndrome") in Angus cattle http://www.dpi.nsw.gov.au/agriculture/livestock/health/specific/cattle/ca-angus :, 2010.
2001 Windsor, PA, Tammen, I :
The Fawn Calf Syndrome: request for information. Journal of the Australian Association of Cattle Veterinarians 18:36, 2001.

Edit History


  • Created by Frank Nicholas on 30 Mar 2011
  • Changed by Frank Nicholas on 15 Aug 2012
  • Changed by Frank Nicholas on 09 Oct 2013
  • Changed by Frank Nicholas on 10 Sep 2014
  • Changed by Imke Tammen2 on 24 Mar 2017