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Papel dos polimorfismos nos genes MSX1/PAX9 associados à agenesia dentária na gestão clínica em pediatria dentária: uma revisão narrativa
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Resumo(s)
Introdução: A agenesia dentária não-sindrómica, caracterizada pela ausência congénita de um ou mais dentes permanentes, é uma das anomalias craniofaciais mais comuns. Entre os fatores etiológicos, destacam-se os genes MSX1 e PAX9. O MSX1 está associado principalmente à ausência de pré-molares e terceiros molares, enquanto o PAX9 com a ausência de molares permanentes. A identificação de polimorfismos nestes genes tem implicações diretas na abordagem clínica e no aconselhamento genético de crianças com hipodontia ou oligodontia.
Objetivo: Esta revisão narrativa tem como objetivo reunir e sintetizar a evidência científica dos últimos 10 anos sobre os polimorfismos genéticos nos genes MSX1 e PAX9 associados à agenesia dentária não-sindrómica em crianças e adolescentes, com foco na sua relevância para a gestão clínica em odontopediatria.
Metodologia: Para atingir os objetivos propostos, foi realizada uma revisão narrativa com a análise de artigos indexados nas bases PubMed, Scopus e Web of Science, publicados entre 2015 e 2025, seguindo critérios pré-definidos. Foram incluídos estudos observacionais e ensaios clínicos, que investigam a associação entre variantes genéticas nos genes MSX1 e PAX9 e a presença de agenesia dentária. Foram excluídos estudos em adultos, síndromes genéticas não relacionadas ou com modelos exclusivamente animais. A análise integrou achados genéticos com estratégias de gestão clínica (ortodontia, prótese, vigilância).
Resultados: As mutações nonsense estão associadas aos fenótipos mais graves para os dois genes. Os dois genes apresentam uma transmissão maioritariamente autossómica dominante. As mutações PAX9 são principalmente do tipo missense e frameshift, com predominância na localização no exão 2 e forte expressividade clínica. Estão associadas à ausência dos segundos molares permanentes. Quanto às mutações MSX1, predominam as formas missense, afetando preferencialmente o domínio homeobox da protéina e estão associadas à ausência dos pré-molares.
Conclusão: Compreender o papel dos polimorfismos nos genes MSX1 e PAX9 na agenesia dentária oferece um contributo relevante para a medicina dentária personalizada, promovendo uma integração entre a genética molecular e a prática clínica em odontopediatria.
Introduction: Non-syndromic tooth agenesis, characterized by the congenital absence of one or more permanent teeth, is one of the most common craniofacial anomalies. Among the etiological factors, the MSX1 and PAX9 genes are particularly prominent. MSX1 is mainly associated with the absence of premolars and third molars, whereas PAX9 is linked to the absence of permanent molars. Identifying polymorphisms in these genes has direct implications for the clinical management and genetic counseling of children with hypodontia or oligodontia. Objective: This narrative review aims to compile and synthesize scientific evidence from the last 10 years regarding genetic polymorphisms in the MSX1 and PAX9 genes associated with non-syndromic tooth agenesis in children and adolescents, with a focus on their relevance to clinical management in pediatric dentistry. Methodology: To achieve the proposed objectives, a narrative review was conducted by analyzing articles indexed in PubMed, Scopus, and Web of Science databases, published between 2015 and 2025, following predefined criteria. Included were observational studies and clinical trials that examined the association between genetic variants in MSX1 and PAX9 and the presence of tooth agenesis. Studies involving adults, unrelated genetic syndromes, or animal models only were excluded. The analysis integrated genetic findings with clinical management strategies (orthodontics, prosthetics, surveillance). Results: Nonsense mutations were associated with the most severe phenotypes for both genes. Both genes exhibit predominantly autosomal dominant inheritance. PAX9 mutations are mainly missense and frameshift types, with a predominance in exon 2 and strong clinical expressivity. They are associated with the absence of second permanent molars. Regarding MSX1, missense mutations predominate, preferentially affecting the homeobox domain of the protein, and are associated with the absence of premolars. Conclusion: Understanding the role of polymorphisms in the MSX1 and PAX9 genes in tooth agenesis provides a valuable contribution to personalized dentistry, promoting integration between molecular genetics and clinical practice in pediatric dentistry.
Introduction: Non-syndromic tooth agenesis, characterized by the congenital absence of one or more permanent teeth, is one of the most common craniofacial anomalies. Among the etiological factors, the MSX1 and PAX9 genes are particularly prominent. MSX1 is mainly associated with the absence of premolars and third molars, whereas PAX9 is linked to the absence of permanent molars. Identifying polymorphisms in these genes has direct implications for the clinical management and genetic counseling of children with hypodontia or oligodontia. Objective: This narrative review aims to compile and synthesize scientific evidence from the last 10 years regarding genetic polymorphisms in the MSX1 and PAX9 genes associated with non-syndromic tooth agenesis in children and adolescents, with a focus on their relevance to clinical management in pediatric dentistry. Methodology: To achieve the proposed objectives, a narrative review was conducted by analyzing articles indexed in PubMed, Scopus, and Web of Science databases, published between 2015 and 2025, following predefined criteria. Included were observational studies and clinical trials that examined the association between genetic variants in MSX1 and PAX9 and the presence of tooth agenesis. Studies involving adults, unrelated genetic syndromes, or animal models only were excluded. The analysis integrated genetic findings with clinical management strategies (orthodontics, prosthetics, surveillance). Results: Nonsense mutations were associated with the most severe phenotypes for both genes. Both genes exhibit predominantly autosomal dominant inheritance. PAX9 mutations are mainly missense and frameshift types, with a predominance in exon 2 and strong clinical expressivity. They are associated with the absence of second permanent molars. Regarding MSX1, missense mutations predominate, preferentially affecting the homeobox domain of the protein, and are associated with the absence of premolars. Conclusion: Understanding the role of polymorphisms in the MSX1 and PAX9 genes in tooth agenesis provides a valuable contribution to personalized dentistry, promoting integration between molecular genetics and clinical practice in pediatric dentistry.
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Palavras-chave
Polimorfismo PAX9 MSX1 Agenesia dentária Polymorphism Tooth agenesis