OMIA 001106-9913 : Axonopathy in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608507 (gene) , 609260 (trait) , 617087 (trait) , 601152 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Demetz syndrome

Molecular basis: Drögemüller et al. (2011) identified a likely causal variant in Tyrolean Grey cattle as the synonymous c.2229C>T SNP, which "is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the preceding intron."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MFN2 mitofusin 2 Bos taurus 16 NC_037343.1 (41711459..41683883) MFN2 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
374 Tyrolean Grey Axonopathy MFN2 splicing Naturally occurring variant ARS-UCD1.2 16 g.41686003G>A c.2229C>T "This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript" 2011 21526202 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)

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.
2021 Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. :
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y.
2011 Drögemüller, C., Reichart, U., Seuberlich, T., Oevermann, A., Baumgartner, M., Kühni Boghenbor, K., Stoffel, M.H., Syring, C., Meylan, M., Müller, S., Müller, M., Gredler, B., Sölkner, J., Leeb, T. :
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One 6:e18931, 2011. Pubmed reference: 21526202. DOI: 10.1371/journal.pone.0018931.
2010 Syring, C., Drögemüller, C., Oevermann, A., Pfister, P., Henke, D., Müller, S., Sölkner, J., Leeb, T., Meylan, M. :
Degenerative axonopathy in a Tyrolean grey calf. J Vet Intern Med 24:1519-23, 2010. Pubmed reference: 21039865. DOI: 10.1111/j.1939-1676.2010.0607.x.
1995 Kwiecien, J.M., Staempfli, H.R., Lach, B., Mok, T., Runstedler, M. :
Congenital axonopathy in a brown Swiss calf Veterinary Pathology 32:72-75, 1995. Pubmed reference: 7725602.
1989 Harper, PA., Healy, PJ. :
Neurological disease associated with degenerative axonopathy of neonatal Holstein-Friesian calves. Aust Vet J 66:143-4, 145-6, 1989. Pubmed reference: 2735893.

Edit History


  • Created by Frank Nicholas on 30 May 2011
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 11 Jul 2017
  • Changed by Imke Tammen2 on 24 Nov 2021