OMIA 001736-9913 : Polled and multisystemic syndrome in Bos taurus
Gerhke et al. (2020) identified "an 11-bp deletion (AC_000159.1:g.52364063_52364073del; Del11) in the second exon of ZEB2 gene as the causal mutation for . . .[a] de novo polled condition [in a "polled bull (FV-Polled1) born to horned parents, indicating a de novo origin of this polled condition"]. We predicted that the deletion would shorten the protein product of ZEB2 by almost 91%. Moreover, we showed that all animals carrying Del11 mutation displayed symptoms similar to Mowat-Wilson syndrome (MWS) in humans, which is also associated with genetic variations in ZEB2. The symptoms in cattle include delayed maturity, small body stature and abnormal shape of skull."Clinical features: As reported by Capitan et al. (2012), this disorder's "clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and cardiac anomalies". Breed: Charolais. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ZEB2||zinc finger E-box binding homeobox 2||Bos taurus||-||no genomic information (-..-)||ZEB2||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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Charolais||Polled and multisystemic syndrome||ZEB2||deletion, gross (>20)||2||A 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2||2012||23152852|
|Fleckvieh||Polledness, abnormal skull shape, small body stature and subfertility||ZEB2||Del11||deletion, small (<=20)||UMD3.1||2||g.52364063_52364073del||2020||33046754|
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.
|2020||Gehrke, L.J., Upadhyay, M., Heidrich, K., Kunz, E., Klaus-Halla, D., Weber, F., Zerbe, H., Seichter, D., Graf, A., Krebs, S., Blum, H., Capitan, A., Thaller, G., Medugorac, I. :|
|A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle. Sci Rep 10:17032, 2020. Pubmed reference: 33046754. DOI: 10.1038/s41598-020-73807-5.|
|2012||Capitan, A., Allais-Bonnet, A., Pinton, A., Marquant-Le Guienne, B., Le Bourhis, D., Grohs, C., Bouet, S., Clément, L., Salas-Cortes, L., Venot, E., Chaffaux, S., Weiss, B., Delpeuch, A., Noé, G., Rossignol, M.N., Barbey, S., Dozias, D., Cobo, E., Barasc, H., Auguste, A., Pannetier, M., Deloche, M.C., Lhuilier, E., Bouchez, O., Esquerré, D., Salin, G., Klopp, C., Donnadieu, C., Chantry-Darmon, C., Hayes, H., Gallard, Y., Ponsart, C., Boichard, D., Pailhoux, E. :|
|A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull. PLoS One 7:e49084, 2012. Pubmed reference: 23152852. DOI: 10.1371/journal.pone.0049084.|
- Created by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 21 Oct 2020