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OMIA:002307-9913 : Frontonasal dysplasia, ZIC2-related in Bos taurus (taurine cattle)

Categories: Craniofacial phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609637 (trait) , 603073 (gene)

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: 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

Associated gene:

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

Variants

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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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002307-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

Edit History


  • Created by Frank Nicholas on 24 Jan 2021
  • Changed by Frank Nicholas on 24 Jan 2021