OMIA 001949-9685 : Hypotrichosis, with short life expectancy in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601705

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: c.1030_1033delCTGT deletion in FOXN1 (Abitbol et al., 2015)

Breed: Birman.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FOXN1 forkhead box N1 Felis catus E1 NC_018736.3 (18280535..18251906) FOXN1 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.
2015 Abitbol, M., Bossé, P., Thomas, A., Tiret, L. :
A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats. PLoS One 10:e0120668, 2015. Pubmed reference: 25781316. DOI: 10.1371/journal.pone.0120668.
1994 Casal, M.L., Straumann, U., Sigg, C., Arnold, S., Rüsch, P. :
Congenital Hypotrichosis with Thymic Aplasia in Nine Birman Kittens. Journal of the American Animal Hospital Association 30:600-602, 1994.
1988 Bourdeau, P., Leonetti, D., Maroille, J-M. , Mialot, M. :
Generalized Hereditary Alopecia of the cat: about a case observed in a Sacred Burmese Cat. Rec Med Vet 164:17-24, 1988.
1984 Hendy-Ibbs, PM. :
Hairless cats in Great Britain. J Hered 75:506-7, 1984. Pubmed reference: 6512243.

Edit History


  • Created by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 24 Mar 2015