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Genetic Characterization Of Hereditary, Sporadic, Dental Agenesis: Research On Pax9 And Msx1 Genes Mutation

Objectives: The aim of this study is to find some genetic aspects of dental agenesis and, in particular, to analyze mutations in the MSX1 and PAX9 genes in individuals with non-syndromic dental agenesis.

The aim is to enhance our understanding of the genetic basis of these anomalies and to provide an epidemiological overview regarding the incidence of agenesis in the population, by innovative, minimally invasive, highly specific methods, following the rules of Good Clinical Practice (Good Clinical Practise, GCP) and in accordance with the Declaration of Helsinki.

Setting and Sample Population: Unit of Paediatric Dentistry of the Dental Clinic "Lidia Verza" of the Civil Hospital of Brescia. 26 patientes

Material and Methods: All patients were submitted to examination of the oral cavity, in order to identify the type of teeth, missing dental elements and any anomalies in the shape or in the structure of the elements in the dental arch. All patients were subjected to a blood sample of 10 cc of peripheral venous blood in order to perform the genetic analysis of PAX9 and MSX1.

Results: It is essential to remember that the research focused exclusively on the two genes PAX9 and MSX1. This means that other mutations in different genes possibly involved with a less obvious and more marginal role in the process of morphogenesis dental could be responsible for the agenesis phenotype found in the analyzed cases.

Conclusions: Considering anamnestic data, it has been supposed the kind of segregation of hereditary traits in family forms; possible ex novo mutations of these genes have not still been found for those who are supposed to have a sporadic form.


Teresa Dinoi, Silvia Caruso, Paraskevi Ntrekou, PieraFiocchini, RobertoGatto, Giuseppe Marzo

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