Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. To explore the molecular cause(s) of OFD VI syndrome, we used an exome sequencing strategy in six unrelated families followed by Sanger sequencing. We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies.

Our study provides the most comprehensive study of oral manifestations in patients with MPS VI. Receiving ERT at very young ages may lessen craniofacial malformations including hypoplasic mandibular condyles and anterior open bite. Oral manifestations can be used as diagnostic features for MPS VI prior to assessing leukocyte ARSB activity or urinary excretion of dermatan sulfate.

Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis. The other had a novel homozygous missense mutation in exon 10, mild gingival fibromatosis and renal calcifications. The periodontitis in our patients may be a syndrome component, and similar findings in previous reports suggest more than coincidence. Fam20a is an allosteric activator that increases Fam20c kinase activity. It is hypothesized that lack of FAM20A activation of FAM20C in our patients with FAM20A mutations might have caused amelogenesis imperfecta, abnormal bone remodeling and periodontitis. Nephrocalcinosis appears not to be a consistent finding of the syndrome and the missense mutation may correlate with mild gingival fibromatosis. Here we report three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity.

Objective:The purpose of this study was to investigate and compare the crystalline structures of recently released MTA Plus (MTA-P), MTA Angelus (MTA-A), DiaRoot BioAggregate (BA) by X-ray diffraction (XRD) analysis.Materials and Methods:Phase analysis was carried out on powder and set forms of tested materials. The powder specimens placed into sample holders that were packed with a glass slide and the set samples prepared according to the manufacturer's instructions were placed into molds. The samples after being set for three days at 37°C and 100% humidity in an incubator were mounted onto the XRD machine and phase identification was accomplished using a search-match software program.Results:XRD findings indicated that major constituents of MTA-P were bismuth oxide, portlandite, dicalcium silicate and tricalcium silicate. The crystal structure of MTA-A were similar to those of MTA-P except for the absence of portlandite. Additionally, MTA-A had tricalcium aluminate differing from MTA-P. BA mainly differed from MTA-P and MTA-A by the radiopacifier (tantalum oxide-TO) in its composition.Conclusions:The majority of constituents of the tested materials have shown similarity except for the presence of tricalcium aluminate in MTA-A and the inclusion of TO in BA. In addition, set MTA-P showed a strong peak of portlandite.

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Tooth agenesis (TA), the failure of development of one or more permanent teeth, is a common craniofacial abnormality observed in different world populations. The genetic etiology of TA is heterogeneous; more than a dozen genes have been associated with isolated or nonsyndromic TA, and more than 80 genes with syndromic forms. In this study, we applied whole exome sequencing (WES) to identify candidate genes contributing to TA in four Turkish families. Likely pathogenic variants with a low allele frequency in the general population were identified in four disease-associated genes, including two distinct variants in TSPEAR, associated with syndromic and isolated TA in one family each; a variant in LAMB3 associated with syndromic TA in one family; and a variant in BCOR plus a disease-associated WNT10A variant in one family with syndromic TA. With the notable exception of WNT10A (Tooth agenesis, selective, 4, MIM #150400), the genotype-phenotype relationships described in the present cohort represent an expansion of the clinical spectrum associated with these genes: TSPEAR (Deafness, autosomal recessive 98, MIM #614861), LAMB3 (Amelogenesis imperfecta, type IA, MIM #104530; Epidermolysis bullosa, junctional, MIMs #226700 and #226650), and BCOR (Microphthalmia, syndromic 2, MIM #300166). We provide evidence supporting the candidacy of these genes with TA, and propose TSPEAR as a novel nonsyndromic TA gene. Our data also suggest potential multilocus genomic variation, or mutational burden, in a single family, involving the BCOR and WNT10A loci, underscoring the complexity of the genotype-phenotype relationship in the common complex trait of TA.

The aim of this study was to evaluate the shear bond strength (SBS) of a microhybrid composite resin bonded with three different adhesive systems to Er:YAG laser- (EL) or bur-prepared dentin surfaces and to analyze the quality and ultrastructure of the adhesive-dentin interfaces by scanning electron microscopy (SEM). The specimens prepared for SBS test and SEM analysis were randomly assigned to eight groups (G1-G8): G1, EL (Fidelis PlusIII, Fotona) + Clearfil S3 Bond (C3S); G2, EL + AdperSE Plus (SE); G3, EL + laser etch + Adper Single Bond2 (SB2); G4, EL + acid etch + SB2; G5, EL + SB2 (no etching); G6, bur + acid etch + SB2; G7, bur + S3; G8, bur + SE. Laser was used in very short pulse mode at a setting of 200 mJ/20 Hz for dentin preparation and at 80 mJ/10 Hz for dentin etching. Bond strength test: 3.5 × 2.0 mm cylindrical molds were placed onto adhesives and filled with the composites. After 24 h in distilled water, SBS was tested at a crosshead speed of 0.5 mm/min. SEM analysis: The dentin-adhesive interfaces were evaluated for the ultrastructure of hybrid layer. Data of SBS (MPa) were statistically analyzed by ANOVA and Tukey HSD. ER:YAG laser-prepared dentin has demonstrated significantly more SBS (p < 0.01) for SE when compared to bur-prepared dentin. No significancies (p > 0.05) in SBS have been determined between the total-etch adhesive applied groups with regard to etching types. SEM analysis revealed that hybrid layers obtained in Er:YAG laser-irradiated dentin exhibited more irregular and non-homogeneous pattern than the conventionally prepared dentin. In conclusion, SE Bond demonstrated superior results in Er:YAG laser-ablated dentin compared to bur-prepared dentin.

PurposeThe aim of this study was to investigate the prevalence and characteristics of ectopically erupting first permanent molars (FPMs) in children attending the clinics of the Pediatric Dentistry Department at İstanbul University.Materials and methodsThis retrospective study was performed using panoramic radiographs of 7,649 patients (3,506 females and 4,143 males) aged from 5 to 11 years. The age and gender of the subjects, the number and location of the ectopic molars, bilateral versus unilateral occurrence, the degree of resorption of the roots of the primary molars, and other associated dental anomalies were assessed. Ectopic eruption was categorized according to a grading system based on the resorption rates of the primary molars.ResultsOf the 7,649 reviewed subjects, 203 (118 males and 85 females) were diagnosed with ectopic eruption of the FPMs, resulting in a frequency of 2.65%. The mean age of the subjects with ectopic FPMs was 6.82±1.25 (range: 5–11) years. Of the 273 ectopic FPMs, 157 (57.5%) were detected in the maxilla and 116 (42.5%) in the mandible. Severe and very severe degrees of ectopic eruption were found to be more common in the maxilla than in the mandible, whereas a moderate degree of ectopic eruption was more prevalent in the mandible (p=0.251).ConclusionTo our knowledge, this is the first study in a Turkish population reporting the prevalence of ectopic eruption of FPMs. Although the difference between the right and the left sides was not significant, the severity of ectopic eruption was different between the maxilla and the mandible.