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Title: | Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review |
Author: | Tallón-Walton, Victòria Manzanares Céspedes, María Cristina Carvalho Lobato, Patricia Valdivia Gandur, Ivan Arte, Sirpa Nieminen, Pekka |
Keywords: | Malformacions dentals Fenotip Malalties hereditàries Transformació genètica Gens Dental abnormalities Phenotype Genetic diseases Genetic transformation Genes |
Issue Date: | 1-May-2014 |
Publisher: | Medicina Oral SL |
Abstract: | Objectives: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. Study Design: Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out. Results: No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. Conclusions: These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies. |
Note: | Reproducció del document publicat a: http://dx.doi.org/doi:10.4317/medoral.19173 |
It is part of: | Medicina Oral, Patología Oral y Cirugía Bucal, 2014, vol. 19, num. 3, p. 248-254 |
URI: | http://hdl.handle.net/2445/67884 |
Related resource: | http://dx.doi.org/doi:10.4317/medoral.19173 |
ISSN: | 1698-4447 |
Appears in Collections: | Articles publicats en revistes (Patologia i Terapèutica Experimental) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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