OMIA 002307-9913 : Frontonasal dysplasia in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609637

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."

Breed: Limousin.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ZIC2 Zic family member 2 Bos taurus 12 NC_037339.1 (76738347..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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Limousin Frontonasal dysplasia ZIC2 deletion, small (<=20) ARS-UCD1.2 12 g.76742067del 2021 33388042

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