OMIA:001200-9823 : Tremor, high-frequency in Sus scrofa
In other species: macaques
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 160500 (trait) , 160760 (gene) , 613426 (trait) , 192600 (trait) , 608358 (trait) , 181430 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Species-specific name: Campus syndrome
Species-specific description: The Campus syndrome is a hereditary progressive high-frequency tremor that occurred among the progeny of a clinically normal German Pietrain boar named Campus, which was used in artificial insemination in southern Germany. In 1988, the boar was transferred to the Hanover School of Veterinary Science, Germany, where the disorder has been intensively studied (Schulze, 1993; Richter et al., 1995; Schulze et al., 1996; Tammen et al., 1997). [Compiled by Imke Tammen]
Inheritance: The disorder is autosomal dominant, but the founder boar is normal. It appears, therefore, that the disorder arises from a germline mutation in Campus. [Compiled by Imke Tammen]
Mapping: In an abstract, Tammen and Harlizius (1996) reported having mapped Campus syndrome to chromosome SSC7q. Tammen et al. (1999) reported the details of this mapping, involving a genome scan with 254 microsatellites thta located the Campus gene in a 8cM region of SSC7q. Tammen et al. (1999) noted that this region of SSC7 corresponds to a portion of human chromosome HSA14 and that a human disorder homologous to Campus syndrome, namely dominant distal myopathy type 1 (MPD1), maps to this region of HSA14.
Molecular basis: The discovery by Meredith et al. (2005; Am. J. Hum. Genet. 75: 703-708) that the molecular basis of human MPD1 is a range of mutations in the myosin heavy-chain gene (MYH7), suggested a strong comparative candidate gene for Campus syndrome. When the porcine genome assembly became available, Murgiano et al. (2012) checked that the porcine MHY7 gene is located in the Campus region and then, by sequencing affected animals, identified "an in-frame insertion within exon 30 of MYH7 (c.4320_4321insCCCGCC) which was perfectly associated with the disease phenotype. . . . The mutation is predicted to insert two amino acids (p.Ala1440_Ala1441insProAla) in a very highly conserved region of the myosin tail."
Clinical features: Affected piglets are normal at birth. The first clinical signs become evident from 2 to 9 weeks of age: a muscular tremor (first in the hind quarters, and later in the forequarters) is observed when the piglets are standing or moving. At rest, the tremor ceases immediately. Within a few weeks, the tremor becomes more pronounced, and the animals are quickly exhausted. They continue to feed, drink and grow normally, except that feed consumption is increased. Plasma lactate levels are increased and body temperature is elevated to 40-41 degrees C. Affected piglets are susceptible to stress and thus their life expectancy is reduced to 3-18 months. Richter et al. (1995) tested several drugs (propranolol, clonazepam, primidone, phenobarbital, biperiden, clozaoine) but none was capable of attenuating the syndrome. Neurophysiological studies revealed a rhythmic 14- to 15-Hz tremor. Ulnar motor nerve conduction velocity is normal. [Compiled by Imke Tammen]
Pathology: Schulze et al. (1996) observed disseminated and grouped angular atrophy of both muscle fiber types (but predominantly type I muscle fibers), small dark fibers, nuclear clumps and occasionally target fibers and moth-eaten fibers. These alterations indicate a denervation atrophy. Transmission electron microscopy revealed that at neuromuscular junctions, occasionally axon terminals are separated from the primary synaptic clefts. Examination of brain, spinal cord and peripheral nerve showed no macroscopical or histopathological alterations. [Compiled by Imke Tammen]
Breed: Pietrain (Pig) (VBO_0001189).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYH7||myosin, heavy chain 7, cardiac muscle, beta||Sus scrofa||7||NC_010449.5 (75650841..75672908)||MYH7||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|
|598||Tremor, high-frequency (Campus syndrome)||MYH7||insertion, small (<=20)||Naturally occurring variant||Sscrofa11.1||7||g.75668349_75668350insGGCGGG||c.4320_4321insCCCGCC||p.(A1440_A1441insPA)||2012||23153285||The genomic location on Sscrofa10.2 was determined by Stephanie Shields (27/05/2020) and updated to the genomic Sscrofa11.1 location by Imke Tammen|
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||Murgiano, L., Tammen, I., Harlizius, B., Drögemüller, C. :|
|A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. BMC Genet 13:99, 2012. Pubmed reference: 23153285 . DOI: 10.1186/1471-2156-13-99.|
|1999||Tammen, I., Schulze, C., Chavez-Moreno, J., Waberski, D., Simon, D., Harlizius, B. :|
|Inheritance and genetic mapping of the Campus syndrome (CPS): A high-frequency tremor disease in pigs Journal of Heredity 90:472-476, 1999. Pubmed reference: 10485136 .|
|1997||Wissel, J., Harlizuis, B., Richter, A., Loscher, W., Schelosky, L., Scholz, U., Poewe, W. :|
|A new tremor mutant in the pietrain pig - an animal model of orthostatic tremor - clinical and neurophysiological observations Movement Disorders 12:743-746, 1997. Pubmed reference: 9380058 . DOI: 10.1002/mds.870120519.|
|1996||Schulze, C., Chavez, C., Harlizius, B., Pohlenz, J. :|
|Hereditary progressive postural tremor in the pig: morphologic and morphometric study of muscle alterations European Journal of Veterinary Pathology 2:5-12, 1996.|
|Tammen, I., Harlizius, B. :|
|A positional cloning study to identify the gene causing the 'Campus syndrome': a hereditary high frequency tremor in pigs Animal Genetics 27 (Suppl. 2):83 only, 1996.|
|1995||Richter, A., Wissel, J., Harlizius, B., Simon, D., Schelosky, L., Scholz, U., Poewe, W., Loscher, W. :|
|The campus syndrome in pigs - neurological, neurophysiological, and neuropharmacological characterization of a new genetic animal model of high-frequency tremor Experimental Neurology 134:205-213, 1995. Pubmed reference: 7556540 . DOI: 10.1006/exnr.1995.1050.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 18 Nov 2012
- Changed by Frank Nicholas on 23 Nov 2012