OMIA:001511-9913 : Contractural arachnodactyly (Fawn calf syndrome) in Bos taurus (taurine cattle)
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 609199 (gene)
Links to MONDO diseases: No links.
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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
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.
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
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ADAMTSL3||ADAMTS like 3||Bos taurus||21||NC_037348.1 (24519651..24111437)||ADAMTSL3||Homologene, Ensembl , NCBI gene|
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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.
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|
|935||Angus (Cattle)||Contractual arachnodactyly (Fawn calf syndrome)||ADAMTSL3||deletion, gross (>20)||Naturally occurring variant||21||"a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene"||2014||Reference not in PubMed; see OMIA 001511-9913 for reference details|
Cite this entry
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.|
- 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
- Changed by Frank Nicholas on 21 Aug 2019
- Changed by Imke Tammen2 on 17 Apr 2021
- Changed by Imke Tammen2 on 19 Jun 2023