OMIA 001736-9913 : Polled and multisystemic syndrome in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 235730

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific symbol: PMS

History: This disorder was first described by Capitan et al. (2012), as a result of screening the entire French cattle population for novel horn-development abnormalities, which identified a "Charolais bull (V.), born to horned parents, that never developed normal horns but instead small horny scabs and for which the polled progeny displayed severe additional symptoms."

Inheritance: As reported by Capitan et al. (2012), "male-specific lethality during the first third of gestation" gives rise to sex-ratio distortion. The authors noted that this is "the first case of male-specific lethality associated with an autosomal locus in a non-murine mammalian species".

Mapping: Capitan et al. (2012) conducted a genome scan with a 50,000 SNP chip on the proband Charolais bull V, "19 unaffected progeny, three affected daughters and their dams". This highlighted a 2.8Mb region on chromosome BTA2 which showed a cluster of loci showing errors of Mendelian inheritance, suggestive of a deletion.

Molecular basis: Genotyping of the three affected daughters with a 777,000 SNP chip, combined with whole-genome sequencing of one of the affected daughters, enabled Capitan et al. (2012) to identify the causative mutation as a 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2. Comparison with the homologous human disorder (see MIM entry above) implied that the syndrome is primarily due to the deletion of ZEB2.

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

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.

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
Charolais Polled and multisystemic syndrome ZEB2 deletion, gross (>20) A 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2 2012 23152852

Reference


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.

Edit History


  • Created by Frank Nicholas on 23 Nov 2012
  • Changed by Frank Nicholas on 23 Nov 2012