OMIA 002090-9913 : Facial dysplasia syndrome in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 101200 , 123500 , 101600

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."

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."

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FGFR2 fibroblast growth factor receptor 2 Bos taurus 26 NC_037353.1 (41558088..41450677) FGFR2 Homologene, Ensembl, NCBI gene

Variants

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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
Holstein Facial dysplasia syndrome FGFR2 missense UMD3.1 26 g.41861956G>T c.927G>T p.Trp309Cys 2017 28768473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


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.

Edit History


  • Created by Frank Nicholas on 19 Jan 2017
  • Changed by Frank Nicholas on 09 Aug 2017