OMIA:000162-9913 : Cardiomyopathy, dilated in Bos taurus (taurine cattle) |
In other species: turkey , dog , domestic cat , pig , rabbit , golden hamster , sea otter , meerkat , black-pencilled marmoset
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 107970 (trait) , 115200 (trait) , 611880 (trait) , 302060 (trait) , 302045 (trait) , 600884 (trait) , 601494 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2011
Cross-species summary: A disorder characterised by cardiac enlargement (especially of the left ventricle), poor myocardial contractility, and congestive heart failure. This disorder occurs in many different forms (see gene specific entries), some of which are not inherited.
Species-specific name: Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopathy
Species-specific symbol: BDCMP
Species-specific description: In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.
Molecular basis: Owczarek-Lipska et al. (2011) showed that this disorder in Red Holstein cattle is due to a nonsense mutation (c.343C>T) in the gene for OPA3.
Breeds:
Holstein Friesian (Cattle) (VBO_0000239),
Red Holstein, Switzerland (Cattle) (VBO_0004501).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
OPA3 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | Bos taurus | 18 | NC_037345.1 (53184942..53118225) | OPA3 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
288 | Holstein Friesian (Cattle) Red Holstein, Switzerland (Cattle) | Cardiomyopathy, dilated | OPA3 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.3 | 18 | NC_037345.1:g.53152213G>A | NM_001245934.1:c.343C>T | NP_001232863.1:p.(Q115*) | UMD3.1 position is g.53546443C>T; cDNA position based on ENSBTAT00000064088.2 | rs479222100 | 2011 | 20923700 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000162-9913: 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.
2018 | Riedi, A., Drögemüller, C., Gurtner, C., Meylan, M. : |
[Bovine dilated cardiomyopathy: Almost forgotten but still present]. Schweiz Arch Tierheilkd 160:289-293, 2018. Pubmed reference: 29717982. DOI: 10.17236/sat00158. | |
2015 | Horiuchi, N., Kumagai, D., Matsumoto, K., Inokuma, H., Furuoka, H., Kobayashi, Y. : |
Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan. J Vet Med Sci 77:1281-3, 2015. Pubmed reference: 25947227. DOI: 10.1292/jvms.15-0150. | |
2011 | Owczarek-Lipska, M., Plattet, P., Zipperle, L., Drögemüller, C., Posthaus, H., Dolf, G., Braunschweig, M.H. : |
A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics 97:51-7, 2011. Pubmed reference: 20923700. DOI: 10.1016/j.ygeno.2010.09.005. | |
2009 | Owczarek-Lipska, M., Denis, C., Eggen, A., Leeb, T., Posthaus, H., Dolf, G., Braunschweig, MH. : |
The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18. Mamm Genome 20:187-92, 2009. Pubmed reference: 19219501. DOI: 10.1007/s00335-009-9171-z. | |
2007 | Guziewicz, K.E., Owczarek-Lipska, M., Küffer, J., Schelling, C., Tontis, A., Denis, C., Eggen, A., Leeb, T., Dolf, G., Braunschweig, M.H. : |
The locus for bovine dilated cardiomyopathy maps to chromosome 18. Anim Genet 38:265-9, 2007. Pubmed reference: 17433012. DOI: 10.1111/j.1365-2052.2007.01596.x. | |
2004 | Leifsson, PS., Agerholm, JS. : |
Familial occurrence of bovine dilated cardiomyopathy in Denmark. J Vet Med A Physiol Pathol Clin Med 51:332-5, 2004. Pubmed reference: 15533113. DOI: 10.1111/j.1439-0442.2004.00652.x. | |
Nart, P., Thompson, H., Barrett, DC., Armstrong, SC., McPhaden, AR. : | |
Clinical and pathological features of dilated cardiomyopathy in Holstein-Friesian cattle. Vet Rec 155:355-61, 2004. Pubmed reference: 15493603. | |
2001 | Furuoka, H., Yagi, S., Murakami, A., Honma, A., Kobayashi, Y., Matsui, T., Miyahara, K., Taniyama, H. : |
Hereditary dilated cardiomyopathy in Holstein-Friesian cattle in Japan: Association with hereditary myopathy of the diaphragmatic muscles Journal of Comparative Pathology 125:159-165, 2001. Pubmed reference: 11578132. DOI: 10.1053/jcpa.2001.0494. | |
1999 | Borsberry, S., Colloff, A. : |
Cardiomyopathy in adult Holstein Friesian cattle Veterinary Record 144:735-736, 1999. Pubmed reference: 10423822. | |
Weekes, J., Wheeler, C.H., Yan, J.X., Weil, J., Eschenhagen, T., Scholtysik, G., Dunn, M.J. : | |
Bovine dilated cardiomyopathy: Proteomic analysis of an animal model of human dilated cardiomyopathy Electrophoresis 20:898-906, 1999. Pubmed reference: 10344265. DOI: 10.1002/(SICI)1522-2683(19990101)20:4/5<898::AID-ELPS898>3.0.CO;2-B. | |
1998 | Dolf, G., Stricker, C., Tontis, A., Martig, J., Gaillard, C. : |
Evidence for autosomal recessive inheritance of a major gene for bovine dilated cardiomyopathy Journal of Animal Science 76:1824-1829, 1998. Pubmed reference: 9690637. | |
1997 | Weil, J., Eschenhagen, T., Magnussen, O., Mittmann, C., Orthey, E., Scholz, H., Schafer, H., Scholtysik, G. : |
Reduction of myocardial myoglobin in bovine dilated cardiomyopathy Journal of Molecular & Cellular Cardiology 29:743-751, 1997. | |
1995 | Danzl, H. : |
The Occurrence of Bovine Cardiomyopathy in Austria Wiener Tierarztliche Monatsschrift 82:16-23, 1995. | |
Eschenhagen, T., Diederich, M., Kluge, S.H., Magnussen, O., Mene, U., Muller, F., Schmitz, W., Scholz, H., Weil, J., Sent, U., Schaad, A., Scholtysik, G., Wuthrich, A., Gaillard, C. : | |
Bovine hereditary cardiomyopathy: An animal model of human dilated cardiomyopathy Journal of Molecular and Cellular Cardiology 27:357-370, 1995. Pubmed reference: 7760357. | |
Graber, H.U., Pfister, H., Martig, J. : | |
Increased concentrations of transferrin in the urine and serum of cattle with cardiomyopathy Research in Veterinary Science 59:160-163, 1995. Pubmed reference: 8525107. | |
1992 | Kumper, H., Bahnemann, R. : |
[Myocardial fibrosis of cattle in Hesse] Tierarztl Prax 20:254-8, 1992. Pubmed reference: 1386692. | |
1991 | Black, D.H., Robinson, T.C., Bradley, R., Wijeratne, W.V.S., Fleetwood, A.J. : |
Cardiomyopathy in Adult Holstein Friesian Cattle in Britain Veterinary Record 129:435, 1991. Pubmed reference: 1776228. | |
Bradley, R., Jefferies, A.R., Jackson, P.G.G., Wijeratne, W.V.S. : | |
Cardiomyopathy in Adult Holstein Friesian Cattle in Britain Journal of Comparative Pathology 104:101-112, 1991. Pubmed reference: 2019669. | |
1990 | Mclennan, M.W., Kelly, W.R. : |
Dilated (Congestive) Cardiomyopathy in a Friesian Heifer Australian Veterinary Journal 67:75-76, 1990. Pubmed reference: 2344340. | |
Tontis, A., Zwahlen, R., Lobsiger, C., Luginbuhl, H. : | |
[Pathology of bovine cardiomyopathy] Schweiz Arch Tierheilkd 132:105-16, 1990. Pubmed reference: 2343288. | |
1982 | Martig, J., Tschudi, P., Perritaz, C., Tontis, A., Luginbuhl, H. : |
[Incidence of cardiac insufficiency in cattle. Preliminary report] Schweiz Arch Tierheilkd 124:69-82, 1982. Pubmed reference: 7089512. |
Edit History
- Created by Frank Nicholas on 09 Oct 2010
- Changed by Frank Nicholas on 10 Aug 2011
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 07 Dec 2012
- Changed by Frank Nicholas on 03 Jun 2013
- Changed by Frank Nicholas on 16 Aug 2016
- Changed by Imke Tammen2 on 08 Oct 2023