IADR Abstract Archives
ANALYSIS OF GENETIC VARIANTS IN TRICHO-DENTO-OSSEOUS SYNDROME WITH AMELOGENESIS IMPERFECTA
Objectives: The objective of this study was to characterize genetically members of a family diagnosed with tricho-dento-osseous syndrome (TDO) and Amelogenesis Imperfecta (AI).
Methods: After signing the informed consent, five individuals from the family under study were clinically examined. They underwent anamnesis and clinical photograph, panoramic and retroalveolar radiograph examinations. Peripheral blood was extracted for DNA analysis. With the data obtained, the genealogy was constructed and analyzed. The DNA of three of the members of the family was analyzed by Whole Exome Sequencing (WES), a service that was obtained from Sistemas Genómicos Company in Spain. The sequencing data were analyzed by using the Genesystem software.
Results: The family under study was composed of 5 members, both parents and three daughters born in wedlock. The genealogy revealed that the inheritance of the syndromic condition was compatible with an autosomal dominant pattern. At the clinical and radiographic examination, the three patients presented phenotypic variability such as: alteration of color and thickness of the dental enamel, with loss of enamel on the occlusal and incisal face of almost all the teeth. Radiographically, a decreased enamel thickness was observed in general, together with a lack of contrast between enamel and dentine. In addition, taurodontism in temporary and permanent molars was observed. In the results of WES the existence of variants in the genes ACPT, DLX3, FAM20C, FAM83H, LTBP3, ITGB6, LAMA3, MMP20, SLC24A4 and TRPM7 was observed. According to the analysis carried out, it was determined that a new variant found in the DLX3 gene would be causative of TDO with AI in this family.
Conclusions: The variant detected in the DLX3 gene would explain the clinical phenotype of TDO syndrome associated with hypoplastic /hypomaturation AI and taurodontism, found in this family.
Methods: After signing the informed consent, five individuals from the family under study were clinically examined. They underwent anamnesis and clinical photograph, panoramic and retroalveolar radiograph examinations. Peripheral blood was extracted for DNA analysis. With the data obtained, the genealogy was constructed and analyzed. The DNA of three of the members of the family was analyzed by Whole Exome Sequencing (WES), a service that was obtained from Sistemas Genómicos Company in Spain. The sequencing data were analyzed by using the Genesystem software.
Results: The family under study was composed of 5 members, both parents and three daughters born in wedlock. The genealogy revealed that the inheritance of the syndromic condition was compatible with an autosomal dominant pattern. At the clinical and radiographic examination, the three patients presented phenotypic variability such as: alteration of color and thickness of the dental enamel, with loss of enamel on the occlusal and incisal face of almost all the teeth. Radiographically, a decreased enamel thickness was observed in general, together with a lack of contrast between enamel and dentine. In addition, taurodontism in temporary and permanent molars was observed. In the results of WES the existence of variants in the genes ACPT, DLX3, FAM20C, FAM83H, LTBP3, ITGB6, LAMA3, MMP20, SLC24A4 and TRPM7 was observed. According to the analysis carried out, it was determined that a new variant found in the DLX3 gene would be causative of TDO with AI in this family.
Conclusions: The variant detected in the DLX3 gene would explain the clinical phenotype of TDO syndrome associated with hypoplastic /hypomaturation AI and taurodontism, found in this family.