Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization.

Abstract

Congenital abnormalities in animals, including abnormalities of the cleft lip and jaw and hypospadias have been reported in all domesticated species. They are a major concern for breeders due to the increased economic loss they entail. In this article, we described a congenital bilateral cheilognathoschisis (cleft lip and jaw) with campylognathia in association with penile hypospadias and preputial hypoplasia with failure of preputial fusion in a <i>Bos taurus</i> crossbred Piedmontese × Wagyu calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. Clinical examination revealed a bilateral cheilognathoschisis of approximately 4 cm in length and 3 cm in width in the widest part, with computer tomography analyses confirming the bilateral absence of the processus nasalis of the incisive bone and the lateral deviation of the processus palatinus towards the left side. Genomic data analyses identified 13 mutations with a high impact on the products of the following overlapped genes: <i>ACVR1</i>, <i>ADGRA2</i>, <i>BHMT2</i>, <i>BMPR1B</i>, <i>CCDC8</i>, <i>CDH1</i>, <i>EGF</i>, <i>F13A1</i>, <i>GSTP1</i>, <i>IRF6</i>, <i>MMP14</i>, <i>MYBPHL</i>, and <i>PHC2</i> with <i>ADGRA2</i>, <i>EGF</i>, <i>F13A1</i>, <i>GSTP1</i>, and <i>IRF6</i> having mutations in a homozygous state. The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case.