Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 261990 (trait) , 618455 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: Also known as Hairless

Mapping: Kuca et al. (2021): "A genome-wide association study using Swiss and US Belted Galloway cattle encompassing 12 cases and 61 controls revealed an association signal on chromosome 29".

Molecular basis: In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "Hephaestin-like 1 is responsible for copper ion transport. Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coats in cattle." A full account of the discovery by Kuca et al. (2021) included details of the likely causal variant, namely chr29: g.721234A>T; c.1684A>T; p.Lys562*.

Clinical features: Kuca et al. (2021): "On clinical examination, the Swiss calf was found to be clinically healthy except for the skin abnormalities. Particular clinical examination of the cardiovascular, respiratory, genitourinary, musculoskeletal, and nervous systems showed no abnormalities. Moreover, no abnormalities in dentition were noticed as previously seen in cattle affected by ectodermal dysplasia characterized by sparse hair and abnormal teeth . . . . The integumentary system examination revealed multiple small to large areas of alopecia on the limbs and the dorsal part of the head, neck, and back . . . . The largest alopecic lesions were located on the lateral and medial aspects of the tarsal joints and the dorsal aspect of the fetlock and carpal joints. Moderate scaling was also present on the dorsal aspect of the head and neck. Excoriations were also present on the dorsal aspect of the fetlock and carpal joints and the lateral aspect of the tarsal joints. There was no evidence of erythema, pruritus, crusting, or thickening of the skin."

Breeds: Belted Galloway (Cattle) (VBO_0000142), Brown Swiss (Cattle) (VBO_0000166).
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: