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Revista Med
Print version ISSN 0121-5256On-line version ISSN 1909-7700
Abstract
PUSAPAZ PUSAPAZ, Daniela Estefanía; ARTURO TERRANOVA, María Camila and TERRANOVA, Daniela Arturo. Genetics of Cleft Lip and Palate: An Overview of Genetic and Environmental Risk Factors. Rev. Med [online]. 2021, vol.29, n.2, pp.93-105. Epub Aug 01, 2022. ISSN 0121-5256. https://doi.org/10.18359/rmed.5706.
cleft 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 databases 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.
Keywords : exposure to environmental risks; cleft palate; harelip; genetics; precision medicine; syndrome (DeCs).