Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization
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 cheilognath...
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| Format: | Article |
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MDPI AG
2023-05-01
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| Series: | Animals |
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| Online Access: | https://www.mdpi.com/2076-2615/13/10/1709 |
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| author | Simona Marc Alexandru Eugeniu Mizeranschi Cristina Paul Gabriel Otavă Jelena Savici Bogdan Sicoe Iuliu Torda Ioan Huțu Călin Mircu Daniela Elena Ilie Mihai Carabaș Oana Maria Boldura |
| author_facet | Simona Marc Alexandru Eugeniu Mizeranschi Cristina Paul Gabriel Otavă Jelena Savici Bogdan Sicoe Iuliu Torda Ioan Huțu Călin Mircu Daniela Elena Ilie Mihai Carabaș Oana Maria Boldura |
| author_sort | Simona Marc |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T04:01:04Z |
| format | Article |
| id | doaj.art-e19aea55c1794c84accb342ce3e79c50 |
| institution | Directory Open Access Journal |
| issn | 2076-2615 |
| language | English |
| last_indexed | 2024-03-11T04:01:04Z |
| publishDate | 2023-05-01 |
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| series | Animals |
| spelling | doaj.art-e19aea55c1794c84accb342ce3e79c502023-11-18T00:11:10ZengMDPI AGAnimals2076-26152023-05-011310170910.3390/ani13101709Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic CharacterizationSimona Marc0Alexandru Eugeniu Mizeranschi1Cristina Paul2Gabriel Otavă3Jelena Savici4Bogdan Sicoe5Iuliu Torda6Ioan Huțu7Călin Mircu8Daniela Elena Ilie9Mihai Carabaș10Oana Maria Boldura11Faculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaThe Molecular Research Department, Research and Development Station for Bovine Arad, Bodrogului Street, 32, 310059 Arad, RomaniaDepartment 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, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaThe Molecular Research Department, Research and Development Station for Bovine Arad, Bodrogului Street, 32, 310059 Arad, RomaniaFaculty of Automatic Control and Computer Science, Politehnica University of Bucharest, Splaiul Independenţei 313, 060042 Bucharest, RomaniaFaculty of Veterinary Medicine, University of Life Sciences ‘’King Mihai I’’ from Timisoara, Calea Aradului 119, 300645 Timisoara, RomaniaCongenital 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.https://www.mdpi.com/2076-2615/13/10/1709cattlecleft lip and jawcheilognathoschisishypospadiasgenomic characterization |
| spellingShingle | Simona Marc Alexandru Eugeniu Mizeranschi Cristina Paul Gabriel Otavă Jelena Savici Bogdan Sicoe Iuliu Torda Ioan Huțu Călin Mircu Daniela Elena Ilie Mihai Carabaș Oana Maria Boldura Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization Animals cattle cleft lip and jaw cheilognathoschisis hypospadias genomic characterization |
| title | Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization |
| title_full | Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization |
| title_fullStr | Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization |
| title_full_unstemmed | Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization |
| title_short | Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization |
| title_sort | simultaneous occurrence of hypospadias and bilateral cleft lip and jaw in a crossbred calf clinical computer tomographic and genomic characterization |
| topic | cattle cleft lip and jaw cheilognathoschisis hypospadias genomic characterization |
| url | https://www.mdpi.com/2076-2615/13/10/1709 |
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