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

Woolley, S A; Eager, K L M; Häfliger, Irene Monika; Bauer, Anina; Drögemüller, Cord; Leeb, Tosso; O'Rourke, B A; Tammen, I (2019). An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. Animal genetics, 50(6), pp. 749-752. Wiley 10.1111/age.12856

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics

UniBE Contributor:

Häfliger, Irene Monika; Bauer, Anina; Drögemüller, Cord and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

04 Oct 2019 15:39

Last Modified:

05 Nov 2019 01:32

Publisher DOI:

10.1111/age.12856

PubMed ID:

31568573

Uncontrolled Keywords:

cattle ichthyosis fetalis rare disease recessive whole genome sequencing

BORIS DOI:

10.7892/boris.133657

URI:

https://boris.unibe.ch/id/eprint/133657

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