OMIA 000685-9615 : Myasthenic syndrome, congenital, CHRNE-related in Canis lupus familiaris
Herder et al. (2017) investigated a litter of Heideterriers (a "nascent" breed not recognized by the FCI), in which 4 out of 11 puppies showed pronounced muscle weakness. Only one of these puppies was available for genetic analysis. Herder et al. (2017) performed whole genome sequencing and identified a homozygous single nucleotide insertion into the coding sequence of the CHRNE gene (XM_014113502.1:c.1436_1437insG). The insertion was predicted to lead to a frameshift and premature stop codon (XP_013968977.1:p.Ser479ArgfsTer14). This variant was absent from the genomes of 274 control dogs. Based on the earlier findings in Jack Russell Terriers and other species, Herder et al. (2017) concluded that "it is plausible that the CHRNE variant may have caused a myasthenia gravis-like disease in the investigated puppy."Breeds: Heideterrier, Jack Russell Terrier. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHRNE||cholinergic receptor, nicotinic, epsilon (muscle)||Canis lupus familiaris||5||NC_051809.1 (31801741..31815685)||CHRNE||Homologene, Ensembl, NCBI gene|
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.
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|
|614||Jack Russell Terrier||Myasthenic syndrome, congenital, due to CHRNE||CHRNE||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||5||g.31705136_31705137insC||c.636_637insC||p.(G212Rfs*274)||ENSCAFT00000083466.1; ENSCAFP00000057633.1; published as c.633_634insC, coordinates in the table updated in accordance to HGVS 3'-rule||2015||26429099|
|804||Heideterrier||Myasthenic syndrome, congenital, due to CHRNE||CHRNE||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||5||g.31707450_31707451insG||c.1436_1437insG||p.(S479Rfs*14)||XM_014113502.1; XP_013968977.1||2017||28508416|
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.
|2020||Mignan, T., Targett, M., Lowrie, M. :|
|Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med 34:1707-1717, 2020. Pubmed reference: 32668077. DOI: 10.1111/jvim.15855.|
|2017||Herder, V., Ciurkiewicz, M., Baumgärtner, W., Jagannathan, V., Leeb, T. :|
|Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Anim Genet 48:625, 2017. Pubmed reference: 28508416. DOI: 10.1111/age.12558.|
|2015||Rinz, C.J., Lennon, V.A., James, F., Thoreson, J.B., Tsai, K.L., Starr-Moss, A.N., Humphries, H.D., Guo, L.T., Palmer, A.C., Clark, L.A., Shelton, G.D. :|
|A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7, 2015. Pubmed reference: 26429099. DOI: 10.1016/j.nmd.2015.09.005.|
|1984||Oda, K., Lambert, E.H., Lennon, V.A., Palmer, A.C. :|
|Congenital canine myasthenia gravis: I. Deficient junctional acetylcholine receptors. Muscle Nerve 7:705-16, 1984. Pubmed reference: 6543919. DOI: 10.1002/mus.880070904.|
|Oda, K., Lennon, V.A., Lambert, E.H., Palmer, A.C. :|
|Congenital canine myasthenia gravis: II. Acetylcholine receptor metabolism. Muscle Nerve 7:717-24, 1984. Pubmed reference: 6543920. DOI: 10.1002/mus.880070905.|
|Wallace, M.E., Palmer, A.C. :|
|Recessive mode of inheritance in myasthenia gravis in the Jack Russell terrier. Vet Rec 114:350, 1984. Pubmed reference: 6719791.|
|1978||Palmer, A.C., Goodyear, J.V. :|
|Congenital myasthenia in the Jack Russel Terrier (correspondence) Veterinary Record 103:433-434, 1978. Pubmed reference: 741601.|
|1974||Palmer, A.C., Barker, J. :|
|Myasthenia in the dog. Vet Rec 95:452-4, 1974. Pubmed reference: 4446286.|
- Created by Frank Nicholas on 09 Nov 2016
- Changed by Frank Nicholas on 09 Nov 2016
- Changed by Tosso Leeb on 16 Jun 2017