Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1016/j.jevs.2022.103898 http://hdl.handle.net/11449/230486 |
Resumo: | Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible separation between cerebral hemispheres. The olfactory bulbs, piriform lobes, and the optic chiasm were absent. At cross sectioning of the prosencephalon, the inner structures of the brain were completely absent, and replaced by a monoventricle lined by the remaining compressed cortex, and the thalami were fused. Since mutations in the sonic hedgehog (SHH) gene have been associated with human holoprosencephaly, the three coding SHH exons were sequenced using liver DNA of the aborted foal. The obtained SHH sequence was similar to the Equus caballus SHH mRNA sequence deposited in Genbank (XM_023640069.1); therefore, no polymorphism in the coding region of this gene justifying the phenotype was observed. This is the first report of alobar holoprosencephaly in horses. |
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Alobar Holoprosencephaly in an Aborted American Quarter Horse FetusCentral nervous systemHorseMalformationSHH geneHoloprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible separation between cerebral hemispheres. The olfactory bulbs, piriform lobes, and the optic chiasm were absent. At cross sectioning of the prosencephalon, the inner structures of the brain were completely absent, and replaced by a monoventricle lined by the remaining compressed cortex, and the thalami were fused. Since mutations in the sonic hedgehog (SHH) gene have been associated with human holoprosencephaly, the three coding SHH exons were sequenced using liver DNA of the aborted foal. The obtained SHH sequence was similar to the Equus caballus SHH mRNA sequence deposited in Genbank (XM_023640069.1); therefore, no polymorphism in the coding region of this gene justifying the phenotype was observed. This is the first report of alobar holoprosencephaly in horses.Department of Veterinary Pathology Federal University of Rio Grande do Sul, Bento Gançalves Av., Rio Grande do SulSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São PauloSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São PauloFederal University of Rio Grande do SulUniversidade Estadual Paulista (UNESP)Henker, Luan CleberLorenzett, Marina PaulaPiva, Manoela MarchezanWronski, Júlia Gabrielade Andrade, Danilo Giorgi Abranches [UNESP]Borges, Alexandre Secorun [UNESP]Driemeier, DavidOliveira-Filho, José Paes [UNESP]Pavarini, Saulo Petinatti2022-04-29T08:40:16Z2022-04-29T08:40:16Z2022-05-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1016/j.jevs.2022.103898Journal of Equine Veterinary Science, v. 112.0737-0806http://hdl.handle.net/11449/23048610.1016/j.jevs.2022.1038982-s2.0-85125571747Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal of Equine Veterinary Scienceinfo:eu-repo/semantics/openAccess2022-04-29T08:40:16Zoai:repositorio.unesp.br:11449/230486Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T20:18:53.440261Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
title |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
spellingShingle |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus Henker, Luan Cleber Central nervous system Horse Malformation SHH gene |
title_short |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
title_full |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
title_fullStr |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
title_full_unstemmed |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
title_sort |
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus |
author |
Henker, Luan Cleber |
author_facet |
Henker, Luan Cleber Lorenzett, Marina Paula Piva, Manoela Marchezan Wronski, Júlia Gabriela de Andrade, Danilo Giorgi Abranches [UNESP] Borges, Alexandre Secorun [UNESP] Driemeier, David Oliveira-Filho, José Paes [UNESP] Pavarini, Saulo Petinatti |
author_role |
author |
author2 |
Lorenzett, Marina Paula Piva, Manoela Marchezan Wronski, Júlia Gabriela de Andrade, Danilo Giorgi Abranches [UNESP] Borges, Alexandre Secorun [UNESP] Driemeier, David Oliveira-Filho, José Paes [UNESP] Pavarini, Saulo Petinatti |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
Federal University of Rio Grande do Sul Universidade Estadual Paulista (UNESP) |
dc.contributor.author.fl_str_mv |
Henker, Luan Cleber Lorenzett, Marina Paula Piva, Manoela Marchezan Wronski, Júlia Gabriela de Andrade, Danilo Giorgi Abranches [UNESP] Borges, Alexandre Secorun [UNESP] Driemeier, David Oliveira-Filho, José Paes [UNESP] Pavarini, Saulo Petinatti |
dc.subject.por.fl_str_mv |
Central nervous system Horse Malformation SHH gene |
topic |
Central nervous system Horse Malformation SHH gene |
description |
Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible separation between cerebral hemispheres. The olfactory bulbs, piriform lobes, and the optic chiasm were absent. At cross sectioning of the prosencephalon, the inner structures of the brain were completely absent, and replaced by a monoventricle lined by the remaining compressed cortex, and the thalami were fused. Since mutations in the sonic hedgehog (SHH) gene have been associated with human holoprosencephaly, the three coding SHH exons were sequenced using liver DNA of the aborted foal. The obtained SHH sequence was similar to the Equus caballus SHH mRNA sequence deposited in Genbank (XM_023640069.1); therefore, no polymorphism in the coding region of this gene justifying the phenotype was observed. This is the first report of alobar holoprosencephaly in horses. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04-29T08:40:16Z 2022-04-29T08:40:16Z 2022-05-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1016/j.jevs.2022.103898 Journal of Equine Veterinary Science, v. 112. 0737-0806 http://hdl.handle.net/11449/230486 10.1016/j.jevs.2022.103898 2-s2.0-85125571747 |
url |
http://dx.doi.org/10.1016/j.jevs.2022.103898 http://hdl.handle.net/11449/230486 |
identifier_str_mv |
Journal of Equine Veterinary Science, v. 112. 0737-0806 10.1016/j.jevs.2022.103898 2-s2.0-85125571747 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Journal of Equine Veterinary Science |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
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1808129187368665088 |