OMIA 002230-9913 : Hypotrichosis, HEPHL1-related in Bos taurus
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." Breed: Belted Galloway. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEPHL1||hephaestin like 1||Bos taurus||29||NC_037356.1 (770614..679014)||HEPHL1||Homologene, Ensembl, NCBI gene|
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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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Belted Galloway||Hypotrichosis||HEPHL1||nonsense (stop-gain)||ARS-UCD1.2||29||g.721234A>T||c.1684A>T||p.(K562*)||NC_037356.1 (ARS-UCD1.2 assembly, chromosome 29): g.721234A>T; NM_001192511.2 c.1684A>T; NP_001179440.1: p.Lys562* (Kuca et al., 2021)||2021||33926013|
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.
|2021||Kuca, T., Marron, B.M., Jacinto, J.G.P., Paris, J.M., Gerspach, C., Beever, J.E., Drögemüller, C. :|
|A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle. Genes (Basel) 12:, 2021. Pubmed reference: 33926013. DOI: 10.3390/genes12050643.|
|2019||Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :|
|Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.|
|2012||Marron, B., Beever, J.E. :|
|A Mutation in Hephaestin-Like 1 (HEPHL1) is Responsible for Hypotrichosis in Belted Galloway Cattle Plant & Animal Genome (PAG) XX :Abstract P0559, 2012.|
- Created by Frank Nicholas on 28 Jan 2020
- Changed by Frank Nicholas on 21 May 2021