Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization
Author:
Marc Simona12ORCID, Mizeranschi Alexandru Eugeniu3, Paul Cristina4ORCID, Otavă Gabriel12, Savici Jelena1, Sicoe Bogdan1, Torda Iuliu12, Huțu Ioan12ORCID, Mircu Călin12ORCID, Ilie Daniela Elena3, Carabaș Mihai5, Boldura Oana Maria12ORCID
Affiliation:
1. Faculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania 2. Research Institute for Biosecurity and Bioengineering, University of Life Sciences ‘’King Mihai I’’ from Timisoara, 300645 Timișoara, Romania 3. The Molecular Research Department, Research and Development Station for Bovine Arad, Bodrogului Street, 32, 310059 Arad, Romania 4. Department of Applied Chemistry and Engineering of Organic and Natural Compounds, Faculty of Industrial Chemistry and Environmental Engineering, Politehnica University Timisoara, Carol Telbisz 6, 300001 Timisoara, Romania 5. Faculty of Automatic Control and Computer Science, Politehnica University of Bucharest, Splaiul Independenţei 313, 060042 Bucharest, Romania
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 Bos taurus 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: ACVR1, ADGRA2, BHMT2, BMPR1B, CCDC8, CDH1, EGF, F13A1, GSTP1, IRF6, MMP14, MYBPHL, and PHC2 with ADGRA2, EGF, F13A1, GSTP1, and IRF6 having mutations in a homozygous state. The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case.
Funder
Increasing the impact of excellence re-search on the capacity for innovation and technology transfer within USAMVB Timișoara
Subject
General Veterinary,Animal Science and Zoology
Reference100 articles.
1. McGeady, T.A., Quinn, P.J., FitzPatrick, E.S., Ryan, M.T., Kilroy, D., and Lonergan, P. (2017). Veterinary Embryology, Wiley Blackwell. 2. Moura, E., and Pimpão, C.T. (2017). Cleft Lip and Palate in the Dog: Medical and Genetic Aspects, InTech. 3. Creating diversity in mammalian facial morphology: A review of potential developmental mechanisms;Usui;EvoDevo,2018 4. Cleft palate in the domestic dog Canis Lupus Familiaris- etiology, pathophtsiology, diagnosis, prevention and treatment;Gruszczynska;Acta. Sci. Polonorum. Zootech.,2014 5. A Genome-wide Association Study ofS Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3;Leslie;Am. J. Hum. Genet.,2016
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