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An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.
Journal article

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.

  • Woolley SA Faculty of Science, Sydney School of Veterinary Science, University of Sydney, Camden, 2570, NSW, Australia.
  • Eager KLM NSW Department of Primary Industries, Elizabeth Macarthur Agricultural Institute, Menangle, 2568, NSW, Australia.
  • Häfliger IM Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, 3001, Switzerland.
  • Bauer A Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, 3001, Switzerland.
  • Drögemüller C Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, 3001, Switzerland.
  • Leeb T Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, 3001, Switzerland.
  • O'Rourke BA NSW Department of Primary Industries, Elizabeth Macarthur Agricultural Institute, Menangle, 2568, NSW, Australia.
  • Tammen I Faculty of Science, Sydney School of Veterinary Science, University of Sydney, Camden, 2570, NSW, Australia.
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  • 2019-10-01
Published in:
  • Animal genetics. - 2019
cattle
ichthyosis fetalis
rare disease
recessive
whole genome sequencing
ATP-Binding Cassette Transporters
Animals
Australia
Cattle
Cattle Diseases
DNA Mutational Analysis
Ichthyosis, Lamellar
Mutation, Missense
English Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal. A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294.2:c.6776T>C) was identified by whole genome sequencing. Mutations in the ABCA12 gene are known to cause ichthyosis fetalis in cattle and Harlequin ichthyosis in humans. Sanger sequencing of the affected calf and the dam confirmed the variant was homozygous in the affected calf and heterozygous in the dam. Further genotyping of 130 Shorthorn animals from the same property revealed an estimated allele frequency of 3.8%. The presented findings enable genetic testing for breeding and diagnostics.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/60265
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