Caprine-like generalized hypoplasia syndrome
Phenotype Details
- Phene ID
- 2971
- Name
- Caprine-like generalized hypoplasia syndrome
- Phene Name
- Syndrome d'Hypoplasie Généralisée Capréoliforme. Also known as Seckel-like syndrome
- OMIA ID
- 1502
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 964 | Caprine-like Generalized Hypoplasia Syndrome | 388266233 | 1 | 13 | g.64710424C>T | c.493C>T | p.(Q165*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Montbéliarde (Cattle) | 162 | 9913 | http://purl.obolibrary.org/obo/VBO_0000306 |
Molecular Genetics
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).