OMIA 001502-9913 : Caprine-like Generalized Hypoplasia Syndrome in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 210600

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

Variants

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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
Montbeliarde Caprine-like Generalized Hypoplasia Syndrome CEP250 nonsense (stop-gain) UMD3.1 13 g.65369074C>T c.493C>T p.Q165* 2015 25902731 Coordinates obtained from and/or confirmed by EBI's VEP

References


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