Categories: Growth / size / body region phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618358 (trait) , 609689 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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: Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: