OMIA 001106-9913 : Axonopathy in Bos taurus

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.

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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
Tyrolean Grey Axonopathy MFN2 splicing UMD3.1 16 g.42562057C>T 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.
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