Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis
Bovine juvenile angiomatosis (BJA) comprises a group of single or multiple proliferative vascular anomalies in the skin and viscera of affected calves. The purpose of this study was to characterize the clinicopathological phenotype of a 1.5-month-old Simmental calf with multiple cutaneous, subcutane...
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MDPI AG
2021-02-01
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| author | Joana G. P. Jacinto Irene M. Häfliger Nicole Borel Patrik Zanolari Cord Drögemüller Inês M. B. Veiga |
| author_facet | Joana G. P. Jacinto Irene M. Häfliger Nicole Borel Patrik Zanolari Cord Drögemüller Inês M. B. Veiga |
| author_sort | Joana G. P. Jacinto |
| collection | DOAJ |
| description | Bovine juvenile angiomatosis (BJA) comprises a group of single or multiple proliferative vascular anomalies in the skin and viscera of affected calves. The purpose of this study was to characterize the clinicopathological phenotype of a 1.5-month-old Simmental calf with multiple cutaneous, subcutaneous, and visceral vascular hamartomas, which were compatible with a generalized form of BJA, and to identify genetic cause for this phenotype by whole-genome sequencing (WGS). The calf was referred to the clinics as a result of its failure to thrive and the presence of multiple cutaneous and subcutaneous nodules, some of which bled abundantly following spontaneous rupture. Gross pathology revealed similar lesions at the inner thoracic wall, diaphragm, mediastinum, pericardium, inner abdominal wall, and mesentery. Histologically, variably sized cavities lined by a single layer of plump cells and supported by a loose stroma with occasional acute hemorrhage were observed. Determined by immunochemistry, the plump cells lining the cavities displayed a strong cytoplasmic signal for PECAM-1, von Willebrand factor, and vimentin. WGS revealed six private protein-changing variants affecting different genes present in the calf and absent in more than 4500 control genomes. Assuming a spontaneous de novo mutation event, one of the identified variants found in the <i>PREX1, UBE3B, PCDHGA2,</i> and <i>ZSWIM6</i> genes may represent a possible candidate pathogenic variant for this rare form of vascular malformation. |
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| issn | 2076-2615 |
| language | English |
| last_indexed | 2024-03-09T00:29:25Z |
| publishDate | 2021-02-01 |
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| spelling | doaj.art-6f083eaf4d00435bbccfd58b7f84cf582023-12-11T18:37:01ZengMDPI AGAnimals2076-26152021-02-0111362410.3390/ani11030624Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile AngiomatosisJoana G. P. Jacinto0Irene M. Häfliger1Nicole Borel2Patrik Zanolari3Cord Drögemüller4Inês M. B. Veiga5Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia (BO), ItalyInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandInstitute of Veterinary Pathology, Vetsuisse Faculty, University of Zurich, 8057 Zurich, SwitzerlandClinic for Ruminants, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandInstitute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandBovine juvenile angiomatosis (BJA) comprises a group of single or multiple proliferative vascular anomalies in the skin and viscera of affected calves. The purpose of this study was to characterize the clinicopathological phenotype of a 1.5-month-old Simmental calf with multiple cutaneous, subcutaneous, and visceral vascular hamartomas, which were compatible with a generalized form of BJA, and to identify genetic cause for this phenotype by whole-genome sequencing (WGS). The calf was referred to the clinics as a result of its failure to thrive and the presence of multiple cutaneous and subcutaneous nodules, some of which bled abundantly following spontaneous rupture. Gross pathology revealed similar lesions at the inner thoracic wall, diaphragm, mediastinum, pericardium, inner abdominal wall, and mesentery. Histologically, variably sized cavities lined by a single layer of plump cells and supported by a loose stroma with occasional acute hemorrhage were observed. Determined by immunochemistry, the plump cells lining the cavities displayed a strong cytoplasmic signal for PECAM-1, von Willebrand factor, and vimentin. WGS revealed six private protein-changing variants affecting different genes present in the calf and absent in more than 4500 control genomes. Assuming a spontaneous de novo mutation event, one of the identified variants found in the <i>PREX1, UBE3B, PCDHGA2,</i> and <i>ZSWIM6</i> genes may represent a possible candidate pathogenic variant for this rare form of vascular malformation.https://www.mdpi.com/2076-2615/11/3/624cattlebovine juvenile angiomatosisvascular hamartomaprecision medicinevascular malformationrare diseases |
| spellingShingle | Joana G. P. Jacinto Irene M. Häfliger Nicole Borel Patrik Zanolari Cord Drögemüller Inês M. B. Veiga Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis Animals cattle bovine juvenile angiomatosis vascular hamartoma precision medicine vascular malformation rare diseases |
| title | Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis |
| title_full | Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis |
| title_fullStr | Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis |
| title_full_unstemmed | Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis |
| title_short | Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis |
| title_sort | clinicopathological and genomic characterization of a simmental calf with generalized bovine juvenile angiomatosis |
| topic | cattle bovine juvenile angiomatosis vascular hamartoma precision medicine vascular malformation rare diseases |
| url | https://www.mdpi.com/2076-2615/11/3/624 |
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