OMIA:002090-9913 : Facial dysplasia syndrome in Bos taurus (taurine cattle)
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: 2017
History: This disorder was first described by Agerholm et al. (2017)
Mapping: Agerholm et al. (2017): "High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26"
Molecular basis: Agerholm et al. (2017): "whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Agerholm et al. (2017): "Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present."
Holstein (black and white) (Cattle) (VBO_0000237).
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|
|FGFR2||fibroblast growth factor receptor 2||Bos taurus||26||NC_037353.1 (41557736..41450677)||FGFR2||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|
|787||Holstein (black and white) (Cattle)||Facial dysplasia syndrome||FGFR2||missense||Naturally occurring variant||ARS-UCD1.2||26||g.41489034C>A||c.927G>T||p.(W309C)||2017||28768473||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
|2017||Agerholm, J.S., McEvoy, F.J., Heegaard, S., Charlier, C., Jagannathan, V., Drögemüller, C. :|
|A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. BMC Genet 18:74, 2017. Pubmed reference: 28768473. DOI: 10.1186/s12863-017-0541-3.|
- Created by Frank Nicholas on 19 Jan 2017
- Changed by Frank Nicholas on 09 Aug 2017