Polled and multisystemic syndrome

Phene ID

3403

Name

Polled and multisystemic syndrome

Phene Name

N/A

OMIA ID

1736

Species ID

9913

Characterised

Yes

Characterised Year

2012

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".

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. 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."