Genetics of Cleft Lip and Palate: An Overview of Genetic and Environmental Risk Factors

Genética‌‌ de‌‌ las‌‌ fisuras‌‌ labiopalatinas‌‌:‌ una‌‌ visión‌ general‌‌ de‌‌ los‌‌ factores‌‌ de‌‌ riesgo‌‌ genéticos‌‌ y‌‌ ambientales;
Genética‌‌ de‌‌ fissura‌ labial‌e‌palatina:‌‌uma‌ visão‌‌ geral‌ de‌ atores‌ de‌ ‌risco‌ genético‌‌ e‌‌ ambiental‌

dc.creatorPusapaz Pusapaz, Daniela Estefania
dc.creatorArturo Terranova, Maria Camila
dc.creatorArturo Terranova, Daniela
dc.date2022-08-01
dc.date2023-03-22T19:09:48Z
dc.date2023-03-22T19:09:48Z
dc.date.accessioned2023-09-06T17:43:19Z
dc.date.available2023-09-06T17:43:19Z
dc.identifierhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5706
dc.identifier10.18359/rmed.5706
dc.identifierhttp://hdl.handle.net/10654/43531
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8692445
dc.descriptionCleft lip and palate are congenital malformations of the stomatognathic system; they occur due to an alteration of the anatomical structures of the skull, face and oral cavity, due to a failure in the fusion of tissues in embryogenesis; malformations can be of the lip, hard palate, soft palate, palatal mucosa, and in some cases of the nasal cavity; moreover, they affect the structures involved in the functions of language, speech, and hearing. Objective: To identify the genetic and environmental factors associated with cleft lip and palate. Methodology: the bibliographic review was carried out in PubMed, LILACS, OVID-MEDLINE academic data- bases using standardized language with DECS-LILACS terms: exposure to environmental risks, cleft palate, cleft lip, genetics, precision medicine and syndrome; Search filters of the databases, types of scientific texts and information relevant to the research were applied. According to the results of the bibliographic search, it was found that the etiology of the fissures is multifactorial and is associated with genetic and environmental factors. The identification of various genes related to these malformations has made it possible to timely recognize when a cleft is syndromic or non-syndromic, which leads to understanding gene-by-gene interaction, identifying functional variants and understanding their etiological importance. Conclusions: the study and knowledge regarding the molecular mechanisms that are involved in the formation of cleft lip and palate has gained strength thanks to the understanding of the human genome and the development of modern molecular biology tools that allow the identification of large amounts of sequence data, causing the candidate genes to increase constantly.  
dc.descriptionLas fisuras labiopalatinas son malformaciones congénitas del sistema estomatognático, se presentan por alteración de las estructuras anatómicas del cráneo, la cara y la cavidad bucal, debido a una falla en la fusión de tejidos en la embriogénesis; las malformaciones pueden ser del labio, el paladar duro, el velo del paladar, la mucosa palatina y en algunos casos de la cavidad nasal; por lo demás, afectan las estructuras que participan en las funciones del lenguaje, el habla y la audición. Objetivo: Identificar los factores genéticos y ambientales asociados a las fisuras labiopalatinas. Metodología: la revisión bibliográfica se realizó en bases de datos académicas PubMed, LILACS, OVID- MEDLINE usando lenguaje normalizado con términos DECS-LILACS: exposición a riesgos ambientales, fisura del paladar, labio leporino, genética, medicina de precisión y síndrome; se aplicaron filtros de búsqueda propios de las bases de datos, tipos de textos científicos e información relevante para la investigación. De acuerdo con los resultados de la búsqueda bibliográfica se encontró que la etio- logía de las fisuras es multifactorial y se asocia a factores genéticos y ambientales. La identificación de diversos genes relacionados con estas malformaciones ha permitido reconocer oportunamente cuándo una fisura es sindrómica o no sindrómica, lo que lleva a entender la interacción gen por gen, a identificar variantes funcionales y a comprender su importancia etiológica. Conclusiones: el estudio y el conocimiento acerca de los mecanismos moleculares que se encuentran involucrados en la formación de las fisuras labiopalatinas ha tomado fuerza gracias al entendimiento del genoma humano y al desarrollo de herramientas modernas de biología molecular que permiten identificar gran cantidad de datos de secuencia, haciendo que los genes candidatos aumenten constantemente. Esto permitirá un manejo oportuno de la enfermedad, la identificación del riesgo de ocurrencia y un tratamiento especializado mediante la medicina de precisión.
dc.descriptionAs fissuras labiopalatais são malformações congênitas do sistema estomatognático, ocorrem por alteração das estruturas anatômicas do crânio, face e cavidade oral, por falha na fusão dos tecidos na embriogênese; as malformações podem ser do lábio, palato duro, palato mole, mucosa palatina e, em alguns casos, da cavidade nasal; caso contrário, afetam as estruturas envolvidas nas funções da linguagem, fala e audição. Objetivo: Identificar os fatores genéticos e ambientais associados à fissura labiopalatal. Metodologia: a revisão bibliográfica foi realizada nas bases de dados acadêmicas PubMed, LILACS, OVID- MEDLINE utilizando linguagem normalizada com termos DECS-LILACS: exposição a riscos ambientais, fenda palatina, lábio leporino, genética, medicina de precisão e síndrome; foram aplicados filtros de busca das bases de dados, tipos de textos científicos e informações relevantes para a pesquisa. Segundo os resultados a partir da pesquisa bibliográfica, foi constatado que a etiologia das fissuras é multifatorial e está associada a fatores genéticos e ambientais. A identificação de vários genes relacionados a essas malformações permitiu reconhecer em curto tempo quando uma fissura é sindrômica ou não sindrômica, o que leva ao entendimento da interação gene a gene, identificação de variantes funcionais e compreensão de sua importância etiológica. Conclusões: o estudo e conhecimento sobre os mecanismos moleculares encontrados envolvidos na formação da fissura labiopalatal ganhou força graças à compreensão do genoma humano e o desenvolvimento de ferramentas modernas de biologia molecular que permitem a identificação de grandes quantidades de dados de sequências, fazendo com que os genes candidatos aumentem constantemente. Isso permitirá a gestão atempada da doença, identificação do risco de ocorrência e tratamento especializado através da medicina de precisão.
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dc.publisherUniversidad Militar Nueva Granada
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5706/5203
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5706/5291
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dc.rightsDerechos de autor 2022 Revista Med
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/4.0
dc.sourceRevista Med; Vol. 29 No. 2 (2021): july - december; 93-106
dc.sourceRevista Med; Vol. 29 Núm. 2 (2021): julio - diciembre; 93-106
dc.source1909-7700
dc.source0121-5256
dc.titleGenetics of Cleft Lip and Palate: An Overview of Genetic and Environmental Risk Factors
dc.titleGenética‌‌ de‌‌ las‌‌ fisuras‌‌ labiopalatinas‌‌:‌ una‌‌ visión‌ general‌‌ de‌‌ los‌‌ factores‌‌ de‌‌ riesgo‌‌ genéticos‌‌ y‌‌ ambientales
dc.titleGenética‌‌ de‌‌ fissura‌ labial‌e‌palatina:‌‌uma‌ visão‌‌ geral‌ de‌ atores‌ de‌ ‌risco‌ genético‌‌ e‌‌ ambiental‌
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion


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