OMIA:001502-9913 : Caprine-like generalized hypoplasia syndrome in Bos taurus (taurine cattle)
Categories: Growth / size / body region phene
Links to MONDO diseases: No links.
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
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."
Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CEP250||centrosomal protein 250kDa||Bos taurus||13||NC_037340.1 (64700048..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||Montbéliarde (Cattle)||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|
Cite this entry
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.|
- 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