Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611026 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: Ichthyosis congenita (IC)

Inheritance: Jacinto et al. (2021): "pedigree records indicated a monogenic recessive trait."

Molecular basis: Jacinto et al. (2021): "Homozygosity mapping and whole-genome sequencing allowed the identification of a homozygous frameshift 1 bp insertion in the FA2H gene (c.9dupC; p.Ala4ArgfsTer142) located in a 1.92 Mb shared identical-by-descent region on chromosome 18 present in all cases, while the parents were heterozygous as expected for obligate carriers."

Clinical features: Jacinto et al. (2021): "Nine affected cattle presenting congenital xerosis, hyperkeratosis and scaling of the skin as well as urolithiasis and cystitis associated with retarded growth were examined. ... A sporadic incidence of mild clinical signs in the skin of heterozygous carriers was observed."

Pathology: Jacinto et al. (2021): "Skin histopathology revealed a severe, diffuse orthokeratotic hyperkeratosis with mild to moderate epidermal hyperplasia."

Prevalence: Jacinto et al. (2021) report an estimated allele frequency of ~ 7.5% in Chianina top sires.

Breed: Chianina (Cattle) (VBO_0000178).
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: