In other species: dog , teleost fishes

Categories: Neoplasm

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 162200 (trait)

Mendelian trait/disorder: unknown

Disease-related: 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: