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OMIA:001401-9913 : Waardenburg syndrome, type 2A in Bos taurus (taurine cattle)

In other species: pig , golden hamster

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 193510 (trait) , 156845 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: 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."

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."

Breed: Angus (Cattle) (VBO_0000104).
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:

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

Variants

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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.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001401-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

Edit History


  • Created by Imke Tammen2 on 21 Apr 2023
  • Changed by Imke Tammen2 on 21 Apr 2023