A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.

doi:10.1371/journal.pone.0049084

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.

PloS one - 1 Jan 2012

Capitan Aurélien, Allais-Bonnet Aurélie, Pinton Alain, Marquant-Le Guienne Brigitte, Le Bourhis Daniel, Grohs Cécile, Bouet Stéphan, Clément Laëtitia, Salas-Cortes Laura, Venot Eric, Chaffaux Stéphane, Weiss Bernard, Delpeuch Arnaud, Noé Guy, Rossignol Marie-Noëlle, Barbey Sarah, Dozias Dominique, Cobo Emilie, Barasc Harmonie, Auguste Aurélie, Pannetier Maëlle, Deloche Marie-Christine, Lhuilier Emeline, Bouchez Olivier, Esquerré Diane, Salin Gérald, Klopp Christophe, Donnadieu Cécile, Chantry-Darmon Céline, Hayes Hélène, Gallard Yves, Ponsart Claire, Boichard Didier, Pailhoux Eric

Abstract excerpt

Polled and Multisystemic Syndrome (PMS) is a novel developmental disorder occurring in the progeny of a single bull. Its clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and cardiac anomalies. PMS is also characterized by a deviation of the sex-ratio, suggesting male lethality during...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Pairing

Share to Cattle Diseases

Share to Fetus

Share to Horns

Share to Inheritance Patterns

Share to Mosaicism

Share to Skin

Source

Open in PubMed Open full text

Identifiers

PMID: 23152852
DOI: 10.1371/journal.pone.0049084
PMCID: PMC3494662

Genes

ZEB2
ARHGAP15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.PMID 23152852Read ↗

A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle.Semantic proximity Read ↗

Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae.Semantic proximity Read ↗

Understanding the effects of the bovine POLLED variants.Semantic proximity Read ↗

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.Semantic proximity Read ↗

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.Semantic proximity Read ↗

The Complex and Diverse Genetic Architecture of the Absence of Horns (Polledness) in Domestic Ruminants, including Goats and Sheep.Semantic proximity Read ↗

Bovine polledness--an autosomal dominant trait with allelic heterogeneity.Semantic proximity Read ↗

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Semantic proximity Read ↗

Independent polled mutations leading to complex gene expression differences in cattle.Semantic proximity Read ↗

Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects.Semantic proximity Read ↗

Genome-wide association reveals the locus responsible for four-horned ruminant.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configurationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.