In other species: taurine cattle , domestic guinea pig

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601705 (trait) , 600838 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: