OMIA 000685-9913 : Myasthenic syndrome, congenital, CHRNE-related in Bos taurus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605809 , 616324 , 608931

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Mapping: 19q13

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kraner et al. (2002) described that a 20-bp deletion within exon 5 (470del20) of the bovCHRNE gene, is the cause of a non-functional allele in Brahman calves. This mutation causes a frame shift, resulting in a premature stop codon in the predicted bovCHRNE protein. The non-functional allele reported by these authors explains the impairment of neuromuscular transmission in affected Brahman calves (Mohammad Shariflou 25/11/2006; FN 21 Sep 2012).

Breed: Brahman.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CHRNE cholinergic receptor, nicotinic epsilon Bos taurus 19 NC_037346.1 (26484698..26489336) CHRNE 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
Brahman Myasthenic syndrome, congenital, CHRNE-related CHRNE deletion, small (<=20) UMD3.1 19 g.27119615 c.448_467del 2002 12481987 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2008 Wise, L.N., Janke, J.J., Washburn, K.E. :
Myasthenia gravis-like syndrome in a Hereford heifer. J Vet Intern Med 22:231-3, 2008. Pubmed reference: 18289316. DOI: 10.1111/j.1939-1676.2007.0004.x.
2007 Thompson, P.N., van der Werf, J.H., Heesterbeek, J.A., van Arendonk, J.A. :
The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits. J Anim Sci 85:604-9, 2007. Pubmed reference: 17121978. DOI: 10.2527/jas.2006-379.
2003 Sieb, JP., Kraner, S., Thompson, PN., Steinlein, OK. :
Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene. Ann N Y Acad Sci 998:125-7, 2003. Pubmed reference: 14592869.
Thompson, P.N., Steinlein, O.K., Harper, C.K., Kraner, S., Sieb, J.P., Guthrie, A.J. :
Congenital myasthenic syndrome of Brahman cattle in South Africa. Vet Rec 153:779-81, 2003. Pubmed reference: 14735994.
2002 Kraner, S., Sieb, J.P., Thompson, P.N., Steinlein, O.K. :
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation Neurogenetics 4:87-91, 2002. Pubmed reference: 12481987.
1998 Thompson, P.N. :
Suspected congenital myasthenia gravis in brahman calves Veterinary Record 143:526-529, 1998. Pubmed reference: 9839364.
1985 Takai, T., Noda, M., Mishina, M., Shimizu, S., Furutani, Y., Kayano, T., Ikeda, T., Kubo, T., Takahashi, H., Takahashi, T. :
Cloning, sequencing and expression of cDNA for a novel subunit of acetylcholine receptor from calf muscle. Nature 315:761-4, 1985. Pubmed reference: 3839289.

Edit History


  • Created by Mohammad Shariflou on 26 Nov 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012