Research algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis

Abstract

Introduction: Dental agenesis (DA), brings together the anodontia, oligodontia, hypodontia, characterized by a deficit in the development of a variable number of teeth. The objectives of the study were to illustrate the phenotypic variability of non-syndromic DA, to identify cases of DA with hereditary genetic transmission, and establish the mode of DA genetic pattern in these cases, together with the determination of DA prevalence in the population group study. Patients, Materials and Methods: The cross-sectional observational study was performed on a mixed population group, consisting of 861 Caucasian patients, between January 2018-December 2019. The clinical evaluation protocol of patients with DA, used to illustrate their phenotype, included the following stages: oral examination, photographic examination, and radiological examination. The evaluation protocol specific to the family genetic study of patients with DA, involved the following three stages: family survey, construction of the family tree and analysis of the pedigree structure. Results: The prevalence of DA in the population group was 2.78%. Regarding the phenotype, DA mainly affected the upper arch (50% of cases); bilateral DA had a significantly increased incidence (83.33% of cases) compared to unilateral form; in most cases (75%), a patient lacked one to two teeth, the lack of two teeth being the most common form (83.33% of cases); the upper lateral incisors were the teeth most frequently involved in DA (31.11% of the total missing teeth). Regarding the family genetic study, hereditary DA with autosomal dominant inheritance was present in 37.50% of cases. In the other cases (62.50%), isolated, sporadic forms of DA were registered, suggesting a spontaneous de novo mutation or a disorder of odontogenesis of a non-genetic nature. Conclusions: We consider that this study is of interest for current scientific research with applicability in dental medicine, by bringing actual information on the prevalence of non-syndromic DA in South-East Romania, the variety of phenotypic spectrum of DA for this geographic area, and the role of heredity in the DA genetic determinism in the studied population.

Oral Lichen Planus Genetics Update

“…Pathogenesis of multifactorial diseases involves the integration of genetic and environmental factors over time [27]- [29].…”

Infraocclusion level and root resorption of the primary molar in second premolar agenesis: A retrospective cross-sectional study in the Portuguese population

“…Remineralization products alone or combined with CO 2 laser irradiation, 25 or CO 2 laser irradiation in different protocols, and resin composites or modified glass ionomer restorations have been suggested to treat the dentinal hypersensitivity associated with dental structure abnormalities. 26,27 Mandibular premolar agenesis has been reported as the most common agenesis just after third molars, ranging from 2.4% to 4.3%, 28,29 with ethnic 3,30 and gender 31 variations, revealing its genetic origin, 4,6 as reported worldwide. 3,6,[30][31][32] Mandibular second premolar (M2P) agenesis occurs mainly with the retention and infraocclusion of the second primary molar (2pm), 33 the loss of alveolar height and width, antagonist supraeruption, and the movement of the adjacent teeth, with a possible negative influence on the sagittal and vertical dentofacial development, and increased overbites.…”

“…Dental agenesis occurs in primary and permanent dentition, usually in the case of third molars, mandibular second premolars, maxillary lateral incisors, and maxillary second premolars, [1][2][3] as a sporadic spontaneous de novo mutation 4 or as familial hypodontia, mainly due to autosomal dominant inheritance, 5 but also as part of a syndromic condition, 6 as a phenotypic feature of common conditions, such as Down syndrome or ectodermal dysplasia, 7,8 isolated or as part of complex syndromes, like labio-palatal cleft 8,9 or oral-facial-digital syndrome type I. 7,10 Other causative factors are environmental factors (radiotherapy, chemotherapy, the disease or infection of the primary tooth, tobacco consumption) or host factors (viral infection during pregnancy, metabolic imbalance).…”

Familial Aggregation Pattern of Non-Syndromic Combined Aplasia of Maxillary Lateral Incisors and Third Molars

“…Dental anomalies of number, known as dental agenesis, bring together the triad of anodontia, oligodontia, hypodontia, characterized by a deficit in the development of a variable number of teeth [1].…”