OMIA 002295-9913 : Ehlers-Danlos syndrome, classic type, 2 in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 130010

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

History: The likely causal variant reported by Jacinto et al. (2020) "represents the first report of a causal variant for cEDS [classic Ehlers-Danlos syndrome] in cattle and the first COL5A2‐related large animal model."

Molecular basis: Jacinto et al. (2020): "Whole‐genome sequencing (WGS) identified a most likely disease‐causing mutation in the COL5A2 gene. . . . Genetic analysis revealed a private heterozygous missense variant inCOL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam."

Clinical features: Jacinto et al. (2020): "A 3‐day‐old female Holstein calf was referred because of easily induced skin detachment and hyperextensibility in the neck. A complete clinical investigation was performed in the calf, dam, and maternal‐grandmother. The calf and dam showed hyperextensibility of the neck skin and atrophic scarring; additionally, the calf presented skin fragility."

Pathology: Jacinto et al. (2020): "histopathology of biopsies from the calf and its dam showed that the collagen bundles in affected skin areas were wavy, short, thin, and surrounded by edema and moderate to severe acute hemorrhages."

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL5A2 collagen type V alpha 2 Bos taurus 2 NC_037329.1 (7198093..7358813) COL5A2 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
Holstein Ehlers-Danlos syndrome, classic type, 2 COL5A2 missense ARS-UCD1.2 2 g.7331916G>T c.2366G>T p.(G789V) XM_024979774.1: c.2366G>T; XP_024835542.1: p.Gly789Val (Jacinto et al., 2020) 2020 33143196

Reference


2020 Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Benazzi, C., Bolcato, M., Drögemüller, C. :
A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. Animals (Basel) 10:, 2020. Pubmed reference: 33143196. DOI: 10.3390/ani10112002.

Edit History


  • Created by Frank Nicholas on 31 Oct 2020
  • Changed by Frank Nicholas on 31 Oct 2020
  • Changed by Frank Nicholas on 04 Nov 2020