Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

OBJECTIVE: Since Wnt signaling plays an important role in both tooth agenesis and altered intestine homeostasis, the aim was to compare gastrointestinal symptoms in patients with isolated oligodontia caused by a Wnt pathway gene mutation and controls. METHODS: A case-control study was designed to compare self-reported gastrointestinal symptoms among patients with isolated oligodontia, caused by a Wnt signaling gene mutation, and fully dentate controls. The Gastrointestinal Symptom Rating Scale (GSRS) was used to assess gastrointestinal symptoms. Prevalence and severity of gastrointestinal symptoms among patients and age- and gender-matched controls was evaluated. RESULTS: Twenty patients with isolated oligodontia and a pathogenic variant in the wnt pathway genes WNT10A, LRP6 or PAX9 participated. The prevalence of gastrointestinal symptoms was higher in the oligodontia patients compared to their controls (Χ2 (1) = 87.33, p = .008). Mean GSRS total scores (p = .011) and domain scores for 'abdominal pain' (p = .022), 'reflux' (p = .003) and constipation (p = .030) were higher for these oligodontia patients compared to their controls. CONCLUSION: Gastrointestinal symptoms are more prevalent and more severe in patients with isolated oligodontia and a deficiency in a Wnt pathway related gene, when compared to controls without tooth agenesis

Oral Health-Related Quality of Life in Dutch Children Diagnosed with Oligodontia. A Cross-Sectional Study

There is need to get insight into condition-specific oral health-related quality of life in Dutch children with oligodontia. Between October 2014 and March 2017, 11-17-year-old oligodontia patients were approached to join a study assessing the impact of oligodontia on condition-specific oral health-related quality of life (OHrQoL). The patients received a condition-specific OHrQoL questionnaire prior to the start of orthodontic treatment. Non-oligodontia children in the same age group, but also requiring orthodontic treatment, were approached to serve as a control. The Fisher's Exact Test was used for comparison purposes with the control group because of the small group sizes. Furthermore, subgroup analyses were performed for gender, age, number of congenitally missing teeth, tooth agenesis in the aesthetic region, orthodontic classification and microdontia via independent t-tests. p-values of <0.05 were considered statistically significant. Twenty-eight oligodontia patients and 23 controls agreed to participate. The oligodontia patients' scores were comparable to the controls except for the items about dental appearance and treatment complexity. The impact of oligodontia on OHrQoL in youngsters is limited and mainly concerns dental appearance and the complexity of the treatment

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. In this report, we describe three individuals with biallelic variants in POLR3GL, a gene encoding a Pol III subunit that has not been associated with disease before. Using whole exome sequencing in a monozygotic twin and an unrelated individual, we detected homozygous and compound heterozygous POLR3GL splice acceptor site variants. RNA sequencing confirmed the loss of full-length POLR3GL RNA transcripts in blood samples of the individuals. The phenotypes of the described individuals are mainly characterized by axial endosteal hyperostosis, oligodontia, short stature, and mild facial dysmorphisms. These features largely fit within the spectrum of phenotypes caused by previously described biallelic variants in POLR3A, POLR3B, POLR1C, and POLR3K. These findings further expand the spectrum of POLR3-related disorders and implicate that POLR3GL should be included in genetic testing if such disorders are suspected

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. In this report, we describe three individuals with biallelic variants in POLR3GL, a gene encoding a Pol III subunit that has not been associated with disease before. Using whole exome sequencing in a monozygotic twin and an unrelated individual, we detected homozygous and compound heterozygous POLR3GL splice acceptor site variants. RNA sequencing confirmed the loss of full-length POLR3GL RNA transcripts in blood samples of the individuals. The phenotypes of the described individuals are mainly characterized by axial endosteal hyperostosis, oligodontia, short stature, and mild facial dysmorphisms. These features largely fit within the spectrum of phenotypes caused by previously described biallelic variants in POLR3A, POLR3B, POLR1C, and POLR3K. These findings further expand the spectrum of POLR3-related disorders and implicate that POLR3GL should be included in genetic testing if such disorders are suspected

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

OBJECTIVE: Since Wnt signaling plays an important role in both tooth agenesis and altered intestine homeostasis, the aim was to compare gastrointestinal symptoms in patients with isolated oligodontia caused by a Wnt pathway gene mutation and controls. METHODS: A case-control study was designed to compare self-reported gastrointestinal symptoms among patients with isolated oligodontia, caused by a Wnt signaling gene mutation, and fully dentate controls. The Gastrointestinal Symptom Rating Scale (GSRS) was used to assess gastrointestinal symptoms. Prevalence and severity of gastrointestinal symptoms among patients and age- and gender-matched controls was evaluated. RESULTS: Twenty patients with isolated oligodontia and a pathogenic variant in the wnt pathway genes WNT10A, LRP6 or PAX9 participated. The prevalence of gastrointestinal symptoms was higher in the oligodontia patients compared to their controls (Χ2 (1) = 87.33, p = .008). Mean GSRS total scores (p = .011) and domain scores for 'abdominal pain' (p = .022), 'reflux' (p = .003) and constipation (p = .030) were higher for these oligodontia patients compared to their controls. CONCLUSION: Gastrointestinal symptoms are more prevalent and more severe in patients with isolated oligodontia and a deficiency in a Wnt pathway related gene, when compared to controls without tooth agenesis

Dentofacial characteristics of patients with hypodontia

Item does not contain fulltextThis study aims to identify distinctive dentofacial characteristics of hypodontia patients. For this purpose, 189 young hypodontia patients (cases) were divided into subgroups, based on criteria from literature. Normalised differences between cases and controls were calculated for various parameters of dentofacial form. Subsequently, cluster analysis was applied to disclose subsets of hypodontia patients with distinctive dentofacial features. The ANB angle, interincisal angle and lower anterior face height were consistently significantly different amongst the subsets. Four clusters of patients with an increasing number of missing teeth and distinctive dentofacial characteristics could be identified. Patients in cluster 1 display a high-angle facial pattern. Patients in clusters 2 and 3 exhibit markable dentoalveolar characteristics (a relatively small and a large interincisal angle, respectively). Patients in cluster 4 exhibited notable sagittal-skeletal discriminative features predominantly because of a retrognathic maxilla. The smallest nasolabial angle and lower anterior face height were seen in this cluster. It is concluded that the anterior-posterior relationship between the jaws, the interincisal angle and the lower anterior face height are discriminative parameters of dentofacial form in hypodontia patients. Patients with hypodontia can be clustered in four groups, each with distinctive vertical-skeletal, dentoalveolar and sagittal-skeletal characteristics. This categorisation of patients with hypodontia into meaningful groups may be useful for treatment planning, interdisciplinary communication and as a means of identifying groups of patients that qualify for reimbursement of costs. Other dental factors should be appreciated as well during restorative clinical decision making in patients with hypodontia.1 augustus 201

The association between WNT10A variants and dental development in patients with isolated oligodontia

In this study we aimed to determine the effect of WNT10A variants on dental development in patients with oligodontia. Forty-three (25 boys and 18 girls) individuals were eligible for this study. Stage of development for each present tooth was assessed using the Demirjian method. In case no corresponding tooth was present, regression equations were applied for dental age to be calculated. The ratio between length of root and length of crown was ascertained for each present tooth in all quadrants. All patients were physically examined by a clinical geneticist and DNA analysis of the WNT10A gene was performed. Linear regression models were applied to analyze the association between WNT10A variants and dental age. The same analysis was applied to study the association between WNT10A variants and root elongation for each present tooth. One ordinal regression model was applied to analyze the association between WNT10A variants and development of present maxillary and mandibular teeth. Thirty-six (84%) patients were detected with WNT10A variants of which six patients displayed evident ectodermal features. Dental age was 1.50 (95% confidence interval (CI): -2.59, -0.42) to 1.96 (95% CI: -3.76, -0.17) years lower in patients with WNT10A variants compared with patients without variants. The development of maxillary canine, maxillary second molar and mandibular second molar was statistically significantly delayed in patients with WNT10A variants compared with patients without variants. The impact of WNT10A variants on dental development increases with presence of the nonsense c.(321C>A p.(C107*)) variant and the number of missing teeth