OMIA:002307-9913 : Frontonasal dysplasia, ZIC2-related in Bos taurus (taurine cattle)
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Molecular basis: Braun et al. (2021): "Filtering whole genome sequencing data revealed a private frameshift variant within the candidate gene ZIC2 in the affected calf. . . . A 1-bp deletion (g.80722845TC>T; ARS-UCD1.2:g.76742066TC>T) in exon 4 of the candidate gene ZIC2 . . . was heterozygous in the affected calf and homozygous wild type in both parents and all other Limousin herdmates and private controls. . . . The origin of this variant is most likely due to a de novo mutation in the germline of one parent or during very early embryonic development."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Limousin (Cattle) (VBO_0000274).
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|
|ZIC2||Zic family member 2||Bos taurus||12||NC_037339.1 (76738408..76742927)||ZIC2||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|
|1283||Limousin (Cattle)||Frontonasal dysplasia||ZIC2||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||12||g.76742067del||c.1596del||p.(S453X)||rs3423095151||2021||33388042|
Cite this entry
|2021||Braun, M., Lehmbecker, A., Eikelberg, D., Hellige, M., Beineke, A., Metzger, J., Distl, O. :|
|De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf. BMC Genomics 22:1, 2021. Pubmed reference: 33388042. DOI: 10.1186/s12864-020-07350-y.|
- Created by Frank Nicholas on 24 Jan 2021
- Changed by Frank Nicholas on 24 Jan 2021