OMIA 001680-9913 : Dominant white with bilateral deafness in Bos taurus
Using "8 cases and 4 control maternal cousins", each genotyped with the Illumina BovineSNP50 chip, Capitan et al. (2014)/Bourneuf et al. (2017) narrowed the location of this trait to a 1.6Mb region on chromosome BTA22: 31,446,714-33,076,318 that contains MITF.Molecular basis: Philipp et al. (2011) reported the cause of this disorder in German Fleckvieh cattle as being a "missense mutation (c.629G>T, p.210R>I) was identified within exon 7 of the bovine MITF" gene.
Bourneuf et al. (2017) discovered a de novo likely causal variant in the same gene in the Holstein breed, namely BTA22: g.31746506_31746508del; p.R211del (UMD3.1).Clinical features: As described by Philipp et al. (2011): "The German White Fleckvieh cattle family exhibited pure white coat color, pink skin without any darker spots or ghost patterns, yellow-white hooves, white horns, pigmentless muzzle, anus, eyelids, eye lashes, cilia, nictitating membranes and conjunctivae . . . . The irides were pale blue in the central part and white towards the periphery . . . . Pupils exhibited typical albinotic light reflection and the ocular fundus was completely or nearly completely albinotic using direct ophthalmoscopy . . . . Optic disks were enlarged and irregular. The white animals were bilaterally deaf. We could not observe behavioural reactions or Preyer's reflex on different sounds. Sensorineural hearing loss could be confirmed using brainstem auditory evoked response (BAER) tests in two young bulls." Breed: German Fleckvieh. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Bos taurus||22||NC_037349.1 (31843514..31614654)||MITF||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|German Fleckvieh||Dominant white with bilateral deafness||MITF||missense||UMD3.1||22||g.31746502G>T||c.629G>T||p.R210I||2011||22174915||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Holstein||Glass-eyed albino||MITF||deletion, small (<=20)||UMD3.1||22||g.31746506_31746508del||p.R211del||2017||28904385|
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.
|2017||Bourneuf, E., Otz, P., Pausch, H., Jagannathan, V., Michot, P., Grohs, C., Piton, G., Ammermüller, S., Deloche, M.C., Fritz, S., Leclerc, H., Péchoux, C., Boukadiri, A., Hozé, C., Saintilan, R., Créchet, F., Mosca, M., Segelke, D., Guillaume, F., Bouet, S., Baur, A., Vasilescu, A., Genestout, L., Thomas, A., Allais-Bonnet, A., Rocha, D., Colle, M.A., Klopp, C., Esquerré, D., Wurmser, C., Flisikowski, K., Schwarzenbacher, H., Burgstaller, J., Brügmann, M., Dietschi, E., Rudolph, N., Freick, M., Barbey, S., Fayolle, G., Danchin-Burge, C., Schibler, L., Bed'Hom, B., Hayes, B.J., Daetwyler, H.D., Fries, R., Boichard, D., Pin, D., Drögemüller, C., Capitan, A. :|
|Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Sci Rep 7:11466, 2017. Pubmed reference: 28904385. DOI: 10.1038/s41598-017-11523-3.|
|2011||Philipp, U., Lupp, B., Mömke, S., Stein, V., Tipold, A., Eule, J.C., Rehage, J., Distl, O. :|
|A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. PLoS One 6:e28857, 2011. Pubmed reference: 22174915. DOI: 10.1371/journal.pone.0028857.|
|1966||Leipold, H.W., Huston, K. :|
|A herd of glass eyed albino Hereford cattle Journal of Heredity 57:179-182, 1966. Pubmed reference: 4961565.|
- Created by Frank Nicholas on 18 Dec 2011
- Changed by Frank Nicholas on 18 Dec 2011
- Changed by Frank Nicholas on 19 Sep 2017