OMIA 001502-9913 : Caprine-like generalized hypoplasia syndrome in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 618358 (trait) , 609689 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Species-specific name: Syndrome d'Hypoplasie Généralisée Capréoliforme. Also known as Seckel-like syndrome

Species-specific symbol: SHGC

Mapping: Duchesne et al. (2009) mapped this disorder to a 6 cM interval on chromosome BTA13. By homozygosity mapping of 19 animals, each genotyped with the Illumina BovineSNP50 BeadChip and each identified as recombinant in the candidate region, Floriot et al. (2015) refined the location to 2.5Mb.

Molecular basis: Nonsense mutation: c.493C>T "at position 65,369,074 in [exon 4 of] the CEP250 gene" "that encodes the centrosomal protein C-Nap1". The mutation "solely affects centrosome cohesion". "Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype". Results and quotations from Floriot et al. (2015).

Clinical features: As reported by Duchesne et al. (2008) this disorder "is characterized by low birth weight (60–70% of the normal weight), pronounced muscular insufficiency and delayed development during the entire life of the animal. In addition, affected animals exhibit a long and thin head (often called ‘deer head’ or ‘sheep head’) and partial coat depigmentation in the red zones."

Breed: Montbeliarde.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CEP250 centrosomal protein 250kDa Bos taurus 13 NC_037340.1 (64700002..64747205) CEP250 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
964 Montbeliarde Caprine-like Generalized Hypoplasia Syndrome CEP250 nonsense (stop-gain) Naturally occurring variant ARS-UCD1.2 13 g.64710424C>T c.493C>T p.(Q165*) 2015 25902731 Coordinates obtained from and/or confirmed by EBI's VEP


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.
2016 Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. :
Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214. DOI: 10.1111/age.12393.
2015 Floriot, S., Vesque, C., Rodriguez, S., Bourgain-Guglielmetti, F., Karaiskou, A., Gautier, M., Duchesne, A., Barbey, S., Fritz, S., Vasilescu, A., Bertaud, M., Moudjou, M., Halliez, S., Cormier-Daire, V., Hokayem, J.E., Nigg, E.A., Manciaux, L., Guatteo, R., Cesbron, N., Toutirais, G., Eggen, A., Schneider-Maunoury, S., Boichard, D., Sobczak-Thépot, J., Schibler, L. :
C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nat Commun 6:6894, 2015. Pubmed reference: 25902731. DOI: 10.1038/ncomms7894.
2008 Duchesne, A., Manciaux, L., Gautier, M., Floriot, S., Grohs, C., Fritz, S., Druet, T., Schelcher, F., Ducos, A., Eggen, A. :
A Generalized Caprine-like Hypoplasia Syndrome is localized within a 6-cM interval on bovine chromosome 13 in the Montbéliarde breed. Anim Genet 39:112-20, 2008. Pubmed reference: 18366474. DOI: 10.1111/j.1365-2052.2007.01688.x.

Edit History

  • Created by Frank Nicholas on 19 Oct 2010
  • Changed by Frank Nicholas on 27 Apr 2015
  • Changed by Frank Nicholas on 28 Apr 2015
  • Changed by Frank Nicholas on 25 Jan 2018