OMIA 000162-9913 : Cardiomyopathy, dilated in Bos taurus

In other species: domestic cat , dog , pig , turkey , golden hamster , sea otter , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107970 , 115200 , 611880 , 302060 , 302045 , 600884 , 601494

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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.

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.

Breed: Red Holstein.

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

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.

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
Red Holstein Cardiomyopathy, dilated OPA3 nonsense (stop-gain) UMD 3.1 18 g.53546443C>T c.343C>T p.Q115* 2011 20923700 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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
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  • Changed by Frank Nicholas on 07 Dec 2012
  • Changed by Frank Nicholas on 03 Jun 2013
  • Changed by Frank Nicholas on 16 Aug 2016