OMIA 000716-9913 : Neurofibromatosis in Bos taurus

In other species: dog , teleost fishes

Possibly relevant human trait(s) and/or gene(s) (MIM number): 162200 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The occurrence of tumours at multiple sites of the brachial plexus, intercostal nerves and cardiac nerves; and, to a lesser extent, in retroserosal areas of the thorax and abdomen, in nerves to the skeletal muscles, and in roots and ganglia of spinal nerves.

Species-specific description: This disorder in cattle appears to be a good animal model for neurofibromatosis type 1 (NF1) in humans, which is an autosomal dominant disorder due to mutations in a gene also called NF1. However, at this stage there is insufficient evidence in cattle to justify a conclusion of single-locus inheritance, and, despite some tantalising evidence presented by Sartin et al. (1994), showing apparent co-segregation of clinical signs with an RFLP at the bovine NF1 locus (using several human NF1 cDNA clones in Southern analysis), it is still too early to claim that bovine neurofibromatosis is caused by mutations at the bovine NF1 locus (Sartin et al., 1994).

Grossi et al. (2014): "Bovine PNSTs [peripheral nerve sheath tumors] share several gross and histopathological characteristics with the PNSTs in humans with heritable neurofibromatosis syndromes. ... Danish Holsteins are genetically disposed to develop PNSTs but the examined materials are insufficient to allow determination of the mode of inheritance."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NF1 neurofibromin 1 Bos taurus 19 NC_037346.1 (18873847..18763113) NF1 Homologene, Ensembl, NCBI gene

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 Osum, S.H., Watson, A.L., Largaespada, D.A. :
Spontaneous and engineered large animal models of neurofibromatosis type 1. Int J Mol Sci 22:1954, 2021. Pubmed reference: 33669386. DOI: 10.3390/ijms22041954.
2014 Grossi, AB., Agerholm, JS., Christensen, K., Jensen, HE., Leifsson, PS., Bendixen, C., Karlskov-Mortensen, P., Fredholm, M. :
A hereditary disposition for bovine peripheral nerve sheath tumors in Danish Holstein cattle. Acta Vet Scand 56:85, 2014. DOI: https://doi.org/10.1186/s13028-014-0085-8.
1994 Riccardi, V.M., Womack, J.E., Jacks, T. :
Neurofibromatosis and related tumors - Natural occurrence and animal models American Journal of Pathology 145:994-1000, 1994. Pubmed reference: 7977656.
Sartin, E.A., Doran, S.E., Riddell, M.G., Herrera, G.A., Tennyson, G.S., Dandrea, G., Whitley, R.D., Collins, F.S. :
Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle - A disorder resembling neurofibromatosis type 1 in humans American Journal of Pathology 145:1168-1174, 1994. Pubmed reference: 7977647.
1978 Slanina, L., Konrád, V., Vajda, V., Lojda, L., Zibrín, M., Tomajková, E., Sokol, J., Lehocký, J., Skarda, R., Mad'ar, J. :
[Congenital neurofibromatosis of the skin in calves]. Dtsch Tierarztl Wochenschr 85:41-5, 1978. Pubmed reference: 414905.
1976 Slanina, L., Konrad, V., Vajda, V., Lojda, L., Zibrin, M., Skarda, R., Bajova, V., Lehocky, J., Sokol, J., Madar, J. :
Mass outbreak of congenital cutaneous neurofibromatosis in calves Veterinarstvi 26:245-249, 1976.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 12 Apr 2021
  • Changed by Imke Tammen2 on 22 Sep 2021