Sequencing of ABCA12 gene in severe congenital skin disease

Abstract

Abstract Rare disorders in cattle are traditionally poorly diagnosed. Harlequin ichthyosis is a rare genetic disorder of animals, including cattle, reported with hyperkeratinized skin, the presence of scaly plates separated by deep fissure and rudimentary ears. In our investigation, we sequenced ABCA12 gene in the affected calf and its dam. Remarkably, the reported mutation of Chianina cattle (NM_001191294.2:g.103030489T>C) H1935R was found to be absent in the Bos indicus calf and in the dam that was obligatory heterozygous. This finding led us to conclude that allelic heterogeneity plays a crucial role in the existence of the disease.