OMIA:002227-9940 : Otocephaly, OTX2-related in Ovis aries (sheep)
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Molecular basis: Highlighting the power of whole-genome sequencing of trios (a single affected individual and its parents), Paris et al. (2020) identified "a heterozygous single nucleotide variant in the OTX2 gene (Chr7: 71478714G > A). The variant was absent in both parents and therefore due to a de novo mutation event. It was a nonsense variant, XM_015097088.2:c.265C > T; which leads to an early premature stop codon and is predicted to truncate more than 70% of the OTX2 open reading frame (p.Arg89*)."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Paris et al. (2020): "A stillborn male lamb of the Istrian Pramenka sheep breed showed several congenital craniofacial anomalies including microstomia, agnathia, aglossia, and synotia. In addition, the lamb had a cleft palate, a small opening in the ventral neck region, a cystic oesophagus and two hepatic cysts. The brain was normally developed despite the deformed shape of the head. Taken together the findings led to a diagnosis of otocephaly."
Istrska pramenka (Sheep) (VBO_0001449).
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|
|OTX2||orthodenticle homeobox 2||Ovis aries||7||NC_056060.1 (67275883..67266178)||OTX2||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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|
|1141||Istrska pramenka (Sheep)||Otocephaly||OTX2||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||7||g.71478714G>A||c.265C>T||p.(R89*)||Paris et al. (2020): XM_015097088.2:c.265C > T||2020||31969185|
Cite this entry
|2020||Paris, J.M., Letko, A., Häfliger, I.M., Švara, T., Gombač, M., Klinc, P., Škibin, A., Pogorevc, E., Drögemüller, C. :|
|A de novo variant in OTX2 in a lamb with otocephaly. Acta Vet Scand 62:5, 2020. Pubmed reference: 31969185. DOI: 10.1186/s13028-020-0503-z.|
- Created by Frank Nicholas on 25 Jan 2020