OMIA:001401-9913 : Waardenburg syndrome, type 2A in Bos taurus (taurine cattle)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2023
Species-specific name: white coat colour
Species-specific description: see also OMIA:000214-9913 Coat colour, white spotting; OMIA:001680-9913 Coat colour, dominant white with bilateral deafness; and OMIA:001931-9913 Depigmentation associated with microphthalmia for other phenes due to MITF variants in cattle.
Molecular basis: Petersen et al. (2023): "whole-genome sequencing was conducted on the trio of individuals. A [de-novo] 3-bp in-frame deletion in MITF was identified; this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Petersen et al. (2023): "A white calf, with minimal pigmented markings, was born to two registered Black Angus parents. ... The breeders of this Angus calf reported no indication that his hearing or eyesight was impaired ... . However, no formal clinical evaluation of auditory or ocular systems was conducted."
Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Bos taurus||22||NC_037349.1 (31843489..31614654)||MITF||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.
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|
|1547||Angus (Cattle)||White coat colour||MITF||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||22||g.31628133_31628135del||c.668_670del||p.(R224del)||ENSBTAT00000080989.1; ENSBTAP00000059022.1; published as chr22.g.31628127_31628128del and delR217 - coordinates have been changed to HGVS nomenclature in this table||2023||37062854|
Cite this entry
|2023||Petersen, J.L., Sieck, R.L., Steffen, D.J. :|
|White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF. Anim Genet 54:549-552, 2023. Pubmed reference: 37062854. DOI: 10.1111/age.13327.|
- Created by Imke Tammen2 on 21 Apr 2023
- Changed by Imke Tammen2 on 21 Apr 2023