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

SIMPLE SUMMARY: Congenital abnormalities in animals are a major concern for breeders due to the increased economic loss they entail. The aim of this article was to describe a congenital bilateral cleft lip and jaw and an abnormal opening of the penile urethra in a crossbred calf. Clinical examinatio...

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Autores principales: Marc, Simona, Mizeranschi, Alexandru Eugeniu, Paul, Cristina, Otavă, Gabriel, Savici, Jelena, Sicoe, Bogdan, Torda, Iuliu, Huțu, Ioan, Mircu, Călin, Ilie, Daniela Elena, Carabaș, Mihai, Boldura, Oana Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215116/
https://www.ncbi.nlm.nih.gov/pubmed/37238140
http://dx.doi.org/10.3390/ani13101709
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author Marc, Simona
Mizeranschi, Alexandru Eugeniu
Paul, Cristina
Otavă, Gabriel
Savici, Jelena
Sicoe, Bogdan
Torda, Iuliu
Huțu, Ioan
Mircu, Călin
Ilie, Daniela Elena
Carabaș, Mihai
Boldura, Oana Maria
author_facet Marc, Simona
Mizeranschi, Alexandru Eugeniu
Paul, Cristina
Otavă, Gabriel
Savici, Jelena
Sicoe, Bogdan
Torda, Iuliu
Huțu, Ioan
Mircu, Călin
Ilie, Daniela Elena
Carabaș, Mihai
Boldura, Oana Maria
author_sort Marc, Simona
collection PubMed
description SIMPLE SUMMARY: Congenital abnormalities in animals are a major concern for breeders due to the increased economic loss they entail. The aim of this article was to describe a congenital bilateral cleft lip and jaw and an abnormal opening of the penile urethra in a crossbred calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. The whole genome investigation indicates the involvement of multiple genes in the two birth defects in this case. 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.
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spelling pubmed-102151162023-05-27 Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization Marc, Simona Mizeranschi, Alexandru Eugeniu Paul, Cristina Otavă, Gabriel Savici, Jelena Sicoe, Bogdan Torda, Iuliu Huțu, Ioan Mircu, Călin Ilie, Daniela Elena Carabaș, Mihai Boldura, Oana Maria Animals (Basel) Article SIMPLE SUMMARY: Congenital abnormalities in animals are a major concern for breeders due to the increased economic loss they entail. The aim of this article was to describe a congenital bilateral cleft lip and jaw and an abnormal opening of the penile urethra in a crossbred calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. The whole genome investigation indicates the involvement of multiple genes in the two birth defects in this case. 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. MDPI 2023-05-22 /pmc/articles/PMC10215116/ /pubmed/37238140 http://dx.doi.org/10.3390/ani13101709 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Marc, Simona
Mizeranschi, Alexandru Eugeniu
Paul, Cristina
Otavă, Gabriel
Savici, Jelena
Sicoe, Bogdan
Torda, Iuliu
Huțu, Ioan
Mircu, Călin
Ilie, Daniela Elena
Carabaș, Mihai
Boldura, Oana Maria
Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and 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 Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215116/
https://www.ncbi.nlm.nih.gov/pubmed/37238140
http://dx.doi.org/10.3390/ani13101709
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