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A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome.

  • Jacinto JGP Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia (Bologna), Italy.
  • Häfliger IM Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
  • Veiga IMB Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
  • Letko A Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
  • Benazzi C Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia (Bologna), Italy.
  • Bolcato M Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia (Bologna), Italy.
  • Drögemüller C Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
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  • 2020-11-04
Published in:
  • Animals : an open access journal from MDPI. - 2020
Bos taurus
collagen V
collagen dysplasia
connective tissue
precision medicine
skin fragility
whole-genome sequencing
English Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. The purpose of this study was to characterize the clinicopathological phenotype of a cEDS-affected Holstein calf and to identify the causative genetic variant associated with the disorder by whole-genome sequencing (WGS). 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. Moreover, the 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. Genetic analysis revealed a private heterozygous missense variant in COL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam. This confirmed the diagnosis of cEDS and represents the first report of a causal variant for cEDS in cattle and the first COL5A2-related large animal model.
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  • English
Open access status
gold
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https://sonar.ch/global/documents/47285
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