Neurofibromatosis, generic

Phene ID

1333

Name

Neurofibromatosis, generic

Phene Name

N/A

OMIA ID

716

Species ID

9913

Characterised

No

Characterised Year

N/A

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."