An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. (30th September 2019)

• Record Type: Journal Article
• Authors: Woolley, S. A.; Eager, K. L. M.; Häfliger, I. M.; Bauer, A.; Drögemüller, C.; Leeb, T.; O'Rourke, B. A.; Tammen, I.
• Is Part Of: Animal genetics. Volume 50:Number 6(2019)
• Page Start: 749
• Page End: 752
• Publication Date: 2019-09-30
• Subjects: cattle -- ichthyosis fetalis -- rare disease -- recessive -- whole genome sequencing; Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12856
• Languages: English
• ISSNs: 0268-9146

Abstract

Summary: 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.