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OMIA:000685-9915 : Myasthenic syndrome, congenital, CHRNE-related in Bos indicus (indicine cattle (zebu))

In other species: dog , taurine cattle

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605809 (trait) , 616324 (trait) , 608931 (trait) , 100725 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Species-specific description: Information about congenital myasthenic syndrome in Brahman cattle was moved from OMIA:000685-9913 : Myasthenic syndrome, congenital, CHRNE-related in Bos taurus to this Bos indicus entry [08/10/2023]

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).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Brahman (Cattle) (VBO_0000159).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CHRNE Bos indicus 19 NC_032668.1 (26859014..26863645) 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.

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
490 Brahman (Cattle) Myasthenic syndrome, congenital, CHRNE-related CHRNE 470del20 deletion, small (<=20) Naturally occurring variant ARS-UCD1.2 19 g.26485848_26485867del c.470_489del Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised rs5334475050 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. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000685-9915: 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.

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.

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  • Created by Imke Tammen2 on 08 Oct 2023
  • Changed by Imke Tammen2 on 08 Oct 2023