OMIA:001949-9685 : Hypotrichosis, with thymic aplasia in Felis catus
In other species: cattle , domestic guinea pig
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601705 (trait) , 600838 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: renamed from 'Hypotrichosis with short life expectancy' [2/5/2023]
Species-specific name: Congenital/hereditary hypotrichosis with short life expectancy
Molecular basis: c.1030_1033delCTGT deletion in FOXN1 (Abitbol et al., 2015)
Clinical features: Abitbol et al. (2015): "In the Birman breed, congenital hypotrichosis associated with reduced lifespan was described during the 1980’s, with hairless kittens born to two purebred Birman cats ... . None of the 13 reported hairless kittens survived beyond eight months; they died from respiratory or digestive infections, or were euthanized soon after birth for other unreported or unexplained medical reasons (Hendy-Ibbs 1984; Bourdeau et al., 1988)." The two kittens reported by Abitbol et al. (2015) "were born hairless ... and developed sparse, shortened and fragile fur ... . Their skin was wrinkled and looked greasy." One of the kittens died at four months of age from severe diarrhoea, the other was euthanized at seven months of age due to skin infections.
Pathology: Abitbol et al. (2015): "Necropsy and histopathological examination of nine hairless Birman kittens born to two normal parents ... revealed an absence of the thymus and a lymphocyte depletion in the paracortical regions of the lymphoid tissue within spleen, Peyer’s patches and lymph nodes (Casal et al. 1994)."
Breed: Birman (Cat) (VBO_0100042).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FOXN1||forkhead box N1||Felis catus||E1||NC_058381.1 (18255680..18227070)||FOXN1||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1319||Birman (Cat)||Hypotrichosis, with short life expectancy||FOXN1||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||E1||g.18255880_18255883del||c.1030_1033del||p.L344Gfs||XM_019817475.2; XP_019673034.1; published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547||2015||25781316||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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 .|
- Created by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Imke Tammen2 on 02 May 2023