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1.
BMC Oral Health ; 24(1): 699, 2024 Jun 16.
Article in English | MEDLINE | ID: mdl-38880907

ABSTRACT

BACKGROUND: The black staining effect of silver-containing solutions for use to arrest caries can have a negative aesthetic impact on children and parents. This study aims to assess the staining effects of Silver Diamine Fluoride/Potassium Iodide (SDF/KI), SDF and Nanosilver Fluoride (NSF). MATERIALS AND METHODS: Forty-four extracted carious primary molars were collected and randomly divided into four groups (n = 11). The carious tissue in all teeth was removed using a chemo-mechanical caries removal agent with an excavator. After caries removal in all groups, SDF, SDF/KI, and NSF were applied to the different groups, while no solution was applied to the control group. Subsequently, the teeth in all groups were restored with compomer. Color values L*, a* and b* were measured using a spectrophotometer at three time points: immediately after compomer restoration (T0), one week later (T1), and four week later (T2). Changes in brightness (ΔL) and color (ΔE) over time were calculated and comparisons among groups were made. RESULTS: The SDF solution induced statistically significant black staining (p = 0.013) and a decrease in L* value (p < 0.001) on the compomer material compared to the other groups over time. CONCLUSIONS: It was observed that SDF/KI has the potential to reduce the black staining effect of SDF, though not entirely. Novel experimental solutions like NSF may offer an alternative to counteract the staining effect of SDF.


Subject(s)
Fluorides, Topical , Potassium Iodide , Quaternary Ammonium Compounds , Silver Compounds , Quaternary Ammonium Compounds/pharmacology , Quaternary Ammonium Compounds/therapeutic use , Potassium Iodide/therapeutic use , Humans , Fluorides, Topical/therapeutic use , In Vitro Techniques , Cariostatic Agents/therapeutic use , Dental Caries/prevention & control , Tooth Discoloration/chemically induced , Tooth, Deciduous , Spectrophotometry , Molar
2.
Int J Mol Sci ; 25(11)2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38892321

ABSTRACT

AMELX mutations cause X-linked amelogenesis imperfecta (AI), known as AI types IE, IIB, and IIC in Witkop's classification, characterized by hypoplastic (reduced thickness) and/or hypomaturation (reduced hardness) enamel defects. In this study, we conducted whole exome analyses to unravel the disease-causing mutations for six AI families. Splicing assays, immunoblotting, and quantitative RT-PCR were conducted to investigate the molecular and cellular effects of the mutations. Four AMELX pathogenic variants (NM_182680.1:c.2T>C; c.29T>C; c.77del; c.145-1G>A) and a whole gene deletion (NG_012494.2:g.307534_403773del) were identified. The affected individuals exhibited enamel malformations, ranging from thin, poorly mineralized enamel with a "snow-capped" appearance to severe hypoplastic defects with minimal enamel. The c.145-1G>A mutation caused a -1 frameshift (NP_001133.1:p.Val35Cysfs*5). Overexpression of c.2T>C and c.29T>C AMELX demonstrated that mutant amelogenin proteins failed to be secreted, causing elevated endoplasmic reticulum stress and potential cell apoptosis. This study reveals a genotype-phenotype relationship for AMELX-associated AI: While amorphic mutations, including large deletions and 5' truncations, of AMELX cause hypoplastic-hypomaturation enamel with snow-capped teeth (AI types IIB and IIC) due to a complete loss of gene function, neomorphic variants, including signal peptide defects and 3' truncations, lead to severe hypoplastic/aplastic enamel (AI type IE) probably caused by "toxic" cellular effects of the mutant proteins.


Subject(s)
Amelogenesis Imperfecta , Amelogenin , Genetic Association Studies , Mutation , Amelogenesis Imperfecta/genetics , Amelogenesis Imperfecta/pathology , Humans , Amelogenin/genetics , Male , Female , Pedigree , Phenotype , Child , Endoplasmic Reticulum Stress/genetics , Genotype , Exome Sequencing
3.
J Dent ; 147: 105097, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38810833

ABSTRACT

OBJECTIVES: This study aims to evaluate antibacterial effects of silver diamine fluoride (SDF), SDF/potassium iodide (KI), and nanosilver fluoride (NSF). METHODS: Antimicrobial activity of sterile saline, 5% sodium hypochlorite (NaOCl), 2% chlorhexidine (CHX), SDF, SDF/KI, NSF, and KI solutions against Streptococcus mutans and Lactobacillus casei was assessed through disc diffusion tests. A dual-species biofilm of S. mutans-L. casei was formed on 48 enamel samples, divided into six groups (n = 8). Group 1 was treated with sterile saline, Group 2 with 5% NaOCl, Group 3 with 2% CHX, Group 4 with SDF, Group 5 with SDF/KI, and Group 6 with NSF. The samples were analysed using confocal laser scanning microscopy (CLSM) and scanning electron microscopy (SEM). Statistical analysis utilized Shapiro-Wilk and Kruskal-Wallis tests and multiple comparisons were conducted using Dunn test. RESULTS: SDF, SDF/KI, and NaOCl displayed significantly higher antibacterial activity against dual-species biofilm compared to NSF and CHX (p < 0.050). CONCLUSIONS: In conclusion, SDF and SDF/KI demonstrated greater antibacterial activity than NSF. SDF's antibacterial activity was unaffected by KI. Further research is needed to determine the appropriate content and concentration for achieving effective antibacterial activity with NSF. CLINICAL SIGNIFICANCE: The use of silver-containing materials is increasing in popularity within pediatric dentistry. In this study, an endeavor has been made to assist pediatric dentists in determining which solution might be more advantageous for preventing caries.

4.
J Dent Child (Chic) ; 90(3): 164-167, 2023 Nov 15.
Article in English | MEDLINE | ID: mdl-38123926

ABSTRACT

Purpose:> To determine the level of knowledge and attitudes of parents regarding teething signs and symptom. Methods: A 55-question survey was administered to 120 parents of children aged six to 36 months who sought care from April 2021 to April 2022 at the Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey. The questionnaire investigated parents' sociodemographic characteristics, their knowledge about the teething process, which signs and symptoms they observed and their approaches toward them. Results: The mean duration of teething was 7.5±1.9 (standard deviation) months (minimum=four months; maximum=15 months). The most common sign or symptom observed during teething was restlessness (87.5 percent). There was no significant relationship between the level of teething knowledge and the socioeconomic status of the families. Conclusion: Parents' knowledge levels about teething process could be increased.


Subject(s)
Health Knowledge, Attitudes, Practice , Tooth Eruption , Child , Humans , Infant , Parents , Surveys and Questionnaires , Turkey
5.
J Dent Sci ; 18(4): 1859-1866, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37799885

ABSTRACT

Abstract Background/purpose: Twin studies are crucial to assess the relative contribution of genetic and environmental factors. This study was conducted to evaluate association between deleterious oral habits and dental caries-periodontal parameters among Turkish twins. Materials and methods: The study comprised 143 pairs of dizygotic (DZ) twins and 59 pairs of monozygotic (MZ) twins aged 3-15 years. Twins were examined for dental caries, plaque index, gingival index, bleeding on probing and deleterious oral habits. Mann Whitney U test was used to examine the data. Results: The MZ twin pairs consisted of 60 male and 58 female twin pairs, whereas the DZ twin pairs consisted of 144 male and 142 female. The mean age of the twins was 9.63 ± 3.0 in MZ twins and 9.47 ± 3.2 in DZ twins. The mean DMFS value of MZ twins with bruxism is higher than those of MZ twins without bruxism (P = 0.001). The mean DMFS value of DZ twins with pacifier sucking is lower than those without (P = 0.007). A statistically significant difference was found between MZ twins with and without nail biting in terms of bleeding on probing and dmfs values (P = 0.035; P = 0.012). The mean values of the plaque index increased due to the mouth breathing in DZ twins (P = 0.024). Regarding the bleeding on probing, there was a statistically significant difference between MZ twins with and without atypical swallowing (P = 0.016). Conclusion: These findings suggest that dental caries-periodontal parameters are similarly affected by deleterious oral habits in MZ and DZ twins.

6.
Children (Basel) ; 10(4)2023 Apr 04.
Article in English | MEDLINE | ID: mdl-37189932

ABSTRACT

The timing of primary tooth eruption is critical for children's health planning and the diagnosis of specific growth disorders. The purpose of this study is to assess the relationship between twin pairs' birth weight, gestational age, and gender, which are indicators of prenatal factors; breast-feeding duration, which is an indicator of postnatal factors; type of delivery, which is an indicator of maternal as well as genetic factors; and age of the primary tooth. Twin children aged from 3 to 15 years who applied to the clinic for the first dental examination constituted the sample group. In this twin study, 59 monozygotic (MZ) twin pairs and 143 dizygotic (DZ) twin pairs were included. Genetic (MZ vs. DZ), maternal (type of delivery, gestational age), perinatal (birth weight, gender), and postnatal (duration of breastfeeding) information was obtained, and effects on the children's Eruption Timing of the First Primary Tooth (ETFPT) were examined. Statistical analysis was performed using the consistent partial least squares structural equation model (robust PLSc) technique. As birth weight increased, the age at first eruption became younger, but this change was different between MZ and DZ twins (p < 0.05). While the age at first tooth eruption was older in identical twins who were breastfed for the first 6 months, this increase was not observed in DZ twins. The mean of ETFPT was calculated as 7.31 months in MZ twins and 6.75 months in DZ twins. The effect of breastfeeding and birth weight on ETFPT may differ according to zygosity in twins. MZ twins may tend to take longer to experience the eruption of their first primary teeth.

7.
Int Endod J ; 56(8): 943-954, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37159186

ABSTRACT

AIM: Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis. FAM20A binds to FAM20C, the Golgi casein kinase (GCK) and potentiates its function to phosphorylate secreted proteins critical for biomineralization. While many FAM20A pathogenic mutations have been reported, the pathogeneses of orodental anomalies in ERS remain to be elucidated. This study aimed to identify disease-causing mutations for patients with ERS phenotypes and to discern the molecular mechanism underlying ERS intrapulpal calcifications. METHODOLOGY: Phenotypic characterization and whole exome analyses were conducted for 8 families and 2 sporadic cases with hypoplastic AI. A minigene assay was performed to investigate the molecular consequences of a FAM20A splice-site variant. RNA sequencing followed by transcription profiling and gene ontology (GO) analyses were carried out for dental pulp tissues of ERS and the control. RESULTS: Biallelic FAM20A mutations were demonstrated for each affected individual, including 7 novel pathogenic variants: c.590-5T>A, c.625T>A (p.Cys209Ser), c.771del (p.Gln258Argfs*28), c.832_835delinsTGTCCGACGGTGTCCGACGGTGTC CA (p.Val278Cysfs*29), c.1232G>A (p.Arg411Gln), c.1297A>G (p.Arg433Gly) and c.1351del (p.Gln451Serfs*4). The c.590-5T>A splice-site mutation caused Exon 3 skipping, which resulted in an in-frame deletion of a unique region of the FAM20A protein, p.(Asp197_Ile214delinsVal). Analyses of differentially expressed genes in ERS pulp tissues demonstrated that genes involved in biomineralization, particularly dentinogenesis, were significantly upregulated, such as DSPP, MMP9, MMP20 and WNT10A. Enrichment analyses indicated overrepresentation of gene sets associated with BMP and SMAD signalling pathways. In contrast, GO terms related to inflammation and axon development were underrepresented. Among BMP signalling genes, BMP agonists GDF7, GDF15, BMP3, BMP8A, BMP8B, BMP4 and BMP6 were upregulated, while BMP antagonists GREM1, BMPER and VWC2 showed decreased expression in ERS dental pulp tissues. CONCLUSIONS: Upregulation of BMP signalling underlies intrapulpal calcifications in ERS. FAM20A plays an essential role in pulp tissue homeostasis and prevention of ectopic mineralization in soft tissues. This critical function probably depends upon MGP (matrix Gla protein), a potent mineralization inhibitor that must be properly phosphorylated by FAM20A-FAM20C kinase complex.


Subject(s)
Amelogenesis Imperfecta , Calcinosis , Dental Enamel Proteins , Nephrocalcinosis , Humans , Nephrocalcinosis/genetics , Nephrocalcinosis/pathology , Amelogenesis Imperfecta/genetics , Amelogenesis Imperfecta/metabolism , Amelogenesis Imperfecta/pathology , Dental Pulp/metabolism , Dental Enamel Proteins/genetics , Mutation , Gene Expression Profiling , Carrier Proteins/genetics
8.
J Pers Med ; 13(2)2023 Feb 14.
Article in English | MEDLINE | ID: mdl-36836560

ABSTRACT

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72 structure and function are discussed. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects.

9.
Minerva Dent Oral Sci ; 72(3): 144-153, 2023 Jun.
Article in English | MEDLINE | ID: mdl-35785933

ABSTRACT

BACKGROUND: This study aimed to determine the differences between preclinical and clinical dental students' knowledge, attitudes, and behaviors regarding Coronavirus disease (COVID-19). METHODS: A cross-sectional study was carried out among 303 undergraduate dental students (107 clinical students and 196 preclinical students). Questionnaires were given to the participants using an online data collection platform. The online questionnaire covered the dental students' socio-demographic information and their knowledge, attitudes and behaviors of Coronavirus disease. RESULTS: More frequently than preclinical students, clinical students benefited from the latest information about the COVID-19 outbreak obtained from television, internet news sites, and the World Health Organization website (P<0.05). The use of other protective equipment other than gloves and goggles has changed from "No" before the pandemic to "Yes" onset of the pandemic (P<0.001). The knowledge level of infection control in dentistry increased significantly more for clinical students than for preclinical students (P<0.001). CONCLUSIONS: Although dental students show reasonable knowledge, attitudes and behavior about COVID-19, attention should be taken to provide education on infectious diseases, starting from preclinical classes, and to make real information resources provided by global and national health authorities accessible to students.


Subject(s)
COVID-19 , Humans , Cross-Sectional Studies , COVID-19/epidemiology , SARS-CoV-2 , Students, Dental , Health Knowledge, Attitudes, Practice
10.
Oral Dis ; 29(8): 3514-3524, 2023 Nov.
Article in English | MEDLINE | ID: mdl-36326426

ABSTRACT

OBJECTIVE: Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds. MATERIALS AND METHODS: Whole-exome analyses were conducted to search for sequence variants associated with the disorder, and micro-computed tomography (µCT) to characterize the enamel defects. RESULTS: The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were also observed and demonstrated by µCT analyses of affected teeth. Four disease-causing LAMA3 mutations (NM_198129.4:c.3712dup; c.5891dup; c.7367del; c.9400G > C) were identified. Compound heterozygous MMP20 mutations (NM_004771.4:c.539A > G; c.692C > T) were also found in one proband with more severe enamel defects, suggesting a mutational synergism on disease phenotypes. Further analyses of the AI-causing mutations suggested that both α3A (short) and α3B (long) isoforms of LAMA3 are essential for enamel formation. CONCLUSIONS: Heterozygous LAMA3 mutations can cause generalized enamel defects (AI1A) with variable expressivity. Laminin-332 is critical not only for appositional growth but also enamel maturation.


Subject(s)
Amelogenesis Imperfecta , Humans , Amelogenesis Imperfecta/diagnostic imaging , Amelogenesis Imperfecta/genetics , Laminin/genetics , X-Ray Microtomography , Dental Enamel/diagnostic imaging , Extracellular Matrix Proteins/genetics , Mutation , Phenotype , Biological Variation, Population , Pedigree
11.
Sci Rep ; 12(1): 16477, 2022 10 01.
Article in English | MEDLINE | ID: mdl-36183038

ABSTRACT

Human ACP4 (OMIM*606362) encodes a transmembrane protein that belongs to histidine acid phosphatase (ACP) family. Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J, OMIM#617297). While ACP activity has long been detected in developing teeth, its functions during tooth development and the pathogenesis of ACP4-associated AI remain largely unknown. Here, we characterized 2 AI1J families and identified a novel ACP4 disease-causing mutation: c.774_775del, p.Gly260Aspfs*29. To investigate the role of ACP4 during amelogenesis, we generated and characterized Acp4R110C mice that carry the p.(Arg110Cys) loss-of-function mutation. Mouse Acp4 expression was the strongest at secretory stage ameloblasts, and the protein localized primarily at Tomes' processes. While Acp4 heterozygous (Acp4+/R110C) mice showed no phenotypes, incisors and molars of homozygous (Acp4R110C/R110C) mice exhibited a thin layer of aplastic enamel with numerous ectopic mineralized nodules. Acp4R110C/R110C ameloblasts appeared normal initially but underwent pathology at mid-way of secretory stage. Ultrastructurally, sporadic enamel ribbons grew on mineralized dentin but failed to elongate, and aberrant needle-like crystals formed instead. Globs of organic matrix accumulated by the distal membranes of defective Tomes' processes. These results demonstrated a critical role for ACP4 in appositional growth of dental enamel probably by processing and regulating enamel matrix proteins around mineralization front apparatus.


Subject(s)
Amelogenesis Imperfecta , Dental Enamel Proteins , Acid Phosphatase/metabolism , Ameloblasts/metabolism , Amelogenesis , Amelogenesis Imperfecta/metabolism , Animals , Dental Enamel Proteins/genetics , Dental Enamel Proteins/metabolism , Histidine/metabolism , Humans , Mice , Mutation
12.
J Pers Med ; 12(6)2022 Jun 19.
Article in English | MEDLINE | ID: mdl-35743786

ABSTRACT

Hereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophosphoprotein (DSPP) gene have been identified to cause DGI type II and III and DD type II; therefore, these are not three different conditions, but rather allelic disorders. In this study, we recruited three families with varying clinical phenotypes from DGI-III to DD-II and performed mutational analysis by candidate gene analysis or whole-exome sequencing. Three novel mutations including a silent mutation (NM_014208.3: c.52-2del, c.135+1G>C, and c.135G>A; p.(Gln45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of the dentin defects. This study did not only expand the mutational spectrum of DSPP gene, but also advanced our understanding of the molecular pathogenesis impacting the severity of hereditary dentin defects.

13.
Genes (Basel) ; 13(5)2022 05 12.
Article in English | MEDLINE | ID: mdl-35627243

ABSTRACT

Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). DSPP mutations fall into two groups: a 5'-group that affects protein targeting and a 3'-group that shifts translation into the −1 reading frame. Using whole-exome sequence (WES) analyses and Single Molecule Real-Time (SMRT) sequencing, we identified disease-causing DSPP mutations in 12 families. Three of the mutations are novel: c.53T>C/p.(Val18Ala); c.3461delG/p.(Ser1154Metfs*160); and c.3700delA/p.(Ser1234Alafs*80). We propose genetic analysis start with WES analysis of proband DNA to identify mutations in COL1A1 and COL1A2 causing dominant forms of osteogenesis imperfecta, 5'-DSPP mutations, and 3'-DSPP frameshifts near the margins of the DSPP repeat region, and SMRT sequencing when the disease-causing mutation is not identified. After reviewing the literature and incorporating new information showing distinct differences in the cell pathology observed between knockin mice with 5'-Dspp or 3'-Dspp mutations, we propose a modified Shields Classification based upon the causative mutation rather than phenotypic severity such that patients identified with 5'-DSPP defects be diagnosed as DGI-III, while those with 3'-DSPP defects be diagnosed as DGI-II.


Subject(s)
Dentinogenesis Imperfecta , Animals , Dentinogenesis Imperfecta/genetics , Extracellular Matrix Proteins/genetics , Humans , Mice , Mutation , Pedigree , Phosphoproteins/genetics , Sialoglycoproteins/genetics
14.
J Clin Pediatr Dent ; 46(2): 160-170, 2022 Mar 01.
Article in English | MEDLINE | ID: mdl-35533222

ABSTRACT

BACKGROUND: The aim of this study is to investigate the relative contributions of genetic and environmental factors to variations in dental dimensions in a sample of Turkish twins, and to estimate heritability using dental casts. STUDY DESIGN: The study samples were selected from the twin children between 3-15 years old who referred for their first dental examination. Fifty nine monozygotic and one hundred and forty three dizygotic twin pairs were examined in the study. The alginate impression material used to create the plaster model of maxilla and mandible. Anterior arch width, posterior arch width, arch length and arch circumference were measured on models prepared from measurements taken for both maxilla and mandible with digital caliper. The similarities and differences of the measurements were compared between pairs of twins and zygocytes. Morever, the effects of bad oral habits, bruxism, a result of psychosocial factors on measurements were examined. Statistical analysis was performed using Paired T Test, Wilcoxon Test and Mann Whitney U test. RESULTS: A total of 404 dental models of 118 (29.2%) monozygotic and 286 (70.8%) dizygotic twins were evaluated. There was no statistical difference between sibling pairs in both monozygotic and dizygotic twins. The measurement similarity between twin siblings differed according to zygosity in all measurements (p<0.05). It has been observed that the finger sucking and mouth breathing affect the dental arch measurements (p<0.05). CONCLUSION: These results indicate that the differences in dental arch dimensions between monozygotic twin pairs are less than the difference between dizygotic twin pairs.


Subject(s)
Dental Arch , Twins, Dizygotic , Adolescent , Child , Child, Preschool , Humans , Mandible , Maxilla , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics
15.
J Pers Med ; 12(2)2022 Jan 24.
Article in English | MEDLINE | ID: mdl-35207639

ABSTRACT

Amelogenesis imperfecta (AI) is a group of rare genetic diseases affecting the tooth enamel. AI is characterized by an inadequate quantity and/or quality of tooth enamel and can be divided into three major categories: hypoplastic, hypocalcified and hypomaturation types. Even though there are some overlapping phenotypes, hypomaturation AI enamel typically has a yellow to brown discoloration with a dull appearance but a normal thickness indicating a less mineralized enamel matrix. In this study, we recruited four Turkish families with hypomaturation AI and performed mutational analysis using whole exome sequencing. These analyses revealed two novel homozygous mutations in the KLK4 gene: a nonsense mutation in exon 3 (NM_004917.4:c.170C>A, p.(Ser57*)) was found in families 1, 2 and 3 and a missense mutation in exon 6 (c.637T>C, p.(Cys213Arg)) in family 4. Functional analysis showed that the missense mutation transcript could not translate the mutant protein efficiently or generated an unstable protein that lacked functional activity. The two novel inactivating KLK4 mutations we identified caused a hypomaturation AI phenotype similar to those caused by the four previously described KLK4 nonsense and frameshift mutations. This study improves our understanding of the normal and pathologic mechanisms of enamel formation.

17.
J Clin Pediatr Dent ; 45(5): 359-370, 2021 Nov 01.
Article in English | MEDLINE | ID: mdl-34740261

ABSTRACT

BACKGROUND: The aim of this study is to investigate the relative contributions of genetic and environmental factors to variations in dental dimensions in a sample of Turkish twins, and to estimate heritability using dental casts. STUDY DESIGN: The study samples were selected from the twin children between 3-15 years old who referred for their first dental examination. Fifty nine monozygotic and one hundred and forty three dizygotic twin pairs were examined in the study. The alginate impression material used to create the plaster model of maxilla and mandible. Anterior arch width, posterior arch width, arch length and arch circumference were measured on models prepared from measurements taken for both maxilla and mandible with digital caliper. The similarities and differences of the measurements were compared between pairs of twins and zygocytes. Morever, the effects of bad oral habits, bruxism, a result of psychosocial factors on measurements were examined. Statistical analysis was performed using Paired T Test, Wilcoxon Test and Mann Whitney U test. RESULTS: A total of 404 dental models of 118 (29.2%) monozygotic and 286 (70.8%) dizygotic twins were evaluated. There was no statistical difference between sibling pairs in both monozygotic and dizygotic twins. The measurement similarity between twin siblings differed according to zygosity in all measurements (p<0.05). It has been observed that the finger sucking and mouth breathing affect the dental arch measurements (p<0.05). CONCLUSION: These results indicate that the differences in dental arch dimensions between monozygotic twin pairs are less than the difference between dizygotic twin pairs.


Subject(s)
Dental Arch , Twins, Dizygotic , Adolescent , Child , Child, Preschool , Humans , Mandible , Maxilla , Twins, Monozygotic
19.
Int J Oral Sci ; 13(1): 32, 2021 09 30.
Article in English | MEDLINE | ID: mdl-34593752

ABSTRACT

Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation. The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients. An online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation, phenotype description, and radiographic records. Additionally, ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses. We identified a novel mutation in WNT10A (c.99_105dup) and eight previously reported mutations in WNT10A (c.433 G > A; c.682 T > A; c.318 C > G; c.511.C > T; c.321 C > A), EDAR (c.581 C > T), and LRP6 (c.1003 C > T, c.2747 G > T). Collectively, 20 different causative genes were implicated among those 393 cases with oligodontia. For each causative gene, the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated. Genotype-phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations, mandibular first premolar agenesis is least associated with PAX9 mutations. Mandibular incisors and maxillary lateral incisor agenesis are most closely linked to EDA mutations.


Subject(s)
Wnt Proteins , Humans , Phenotype
20.
Odovtos (En línea) ; 23(2)ago. 2021.
Article in English | LILACS, SaludCR | ID: biblio-1386532

ABSTRACT

ABSTRACT: Purpose: Space maintainers are important for the health and placement of children's primary and permanent teeth. However, plaque and caries levels can be negatively affected when a dental appliance is in the mouth. This study aims to evaluate the oral health of pediatric patients that have space maintainers applied as a result of early tooth loss. Methods: This study included 100 systemically healthy patients between the ages of 4-15 years that were treated with space maintainers due to early loss of teeth. Decayed, missing, filled tooth index values and dental plaque status of the participants were recorded. Controls were performed in the 6th and 12th month. The index results were compared and evaluated statistically using ANOVA and paired-t-tests. Results: A total of 116 space maintainers, including 36 band and loops, 16 lingual arches, 21 palatal arches, 43 removable appliances, were evaluated in the study. Statistically significant differences were found between the pre-treatment and post-treatment index values (p<0.001). In the group of band and loops and removable space maintainers; the increases in DMFT/dft values of 6th month and 12th month according to initial DMFT/dft values were statistically significant (p<0.05). For plaque index, the increase in 12th month of all types of appliances were found statistically significant (p<0.001). The greatest increase in plaque index level was seen in the teeth of patients that had been treated with a lingual arch. Conclusions: Incompatible space maintainers can lead to caries, increased plaque accumulation, demineralized areas, and periodontal problems. The accumulation of plaque and difficulty of cleaning the teeth, especially in the fixed space maintainers, negatively affects the health of teeth. For this reason, good oral hygiene should be provided to patients and controls should be regularly performed.


RESUMEN: Los mantenedores de espacio son importantes para la salud y la colocación de la dentición primaria y permanente de los niños. Sin embargo, los niveles de placa y caries pueden verse afectados negativamente cuando se coloca un aparato dental en la boca. Este estudio tiene como objetivo evaluar la salud bucal de pacientes pediátricos a los que se les aplicó mantenedores de espacio como resultado de la pérdida temprana de los dientes. Métodos: Este estudio incluyó a 100 pacientes sistémicamente sanos entre las edades de 4 a 15 años que fueron tratados con mantenedores de espacio debido a la pérdida temprana de dientes. Se anotaron los valores del índice de dientes cariados, faltantes y el estado de la placa dental. Los controles se realizaron en el 6° y 12° mes. Los resultados del índice se compararon y evaluaron estadísticamente mediante ANOVA y pruebas t pareadas. Resultados: Un total de 116 mantenedores de espacio, incluyendo 36 bandas y bucles, 16 arcos linguales, 21 arcos palatinos, 43 dispositivos removibles, fueron evaluados en el estudio. Se encontraron diferencias estadísticamente significativas entre los valores de los índices en el pretratamiento y postratamiento (p<0.001). En el grupo de bandas, bucles y mantenedores de espacio removibles los aumentos en los valores de DMFT/ dft en el sexto mes y el 12º mes fueron estadísticamente significativos (p<0.05). Para el índice de placa, el aumento en el 12º mes de todos los tipos de aparatos se encontró estadísticamente significativo (p<0,001). El mayor aumento en el nivel del índice de placa se observó en los pacientes que habían sido tratados con un arco lingual. Conclusiones: los mantenedores de espacio pueden provocar caries, aumento de la acumulación de placa, áreas desmineralizadas y problemas periodontales. La acumulación de placa y la dificultad de limpiar los dientes, especialmente en los mantenedores de espacio fijos, afecta negativamente la salud dental. Por esta razón, se debe proporcionar una buena higiene bucal a los pacientes y se deben realizar controles regularmente.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Oral Hygiene/methods , Space Maintenance, Orthodontic/instrumentation , Turkey
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