-
International Journal of Molecular... May 2024KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling pathways, which are essential for tooth development. The objective of this study was to...
KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling pathways, which are essential for tooth development. The objective of this study was to investigate if genetic variants in might also be associated with isolated dental anomalies. We clinically and radiographically investigated 362 patients affected with isolated dental anomalies. Whole exome sequencing identified two unrelated families with rare (p.Arg241Gln) or novel (p.Pro243Ser) variants in . The variants segregated with the dental anomalies in all nine patients from the two families. Clinical findings of the patients included taurodontism, unseparated roots, long roots, tooth agenesis, a supernumerary tooth, torus palatinus, and torus mandibularis. The role of Kctd1 in root development is supported by our immunohistochemical study showing high expression of Kctd1 in Hertwig epithelial root sheath. The KCTD1 variants in our patients are the first variants found to be located in the C-terminal domain, which might disrupt protein-protein interactions and/or SUMOylation and subsequently result in aberrant WNT-SHH-BMP signaling and isolated dental anomalies. Functional studies on the p.Arg241Gln variant are consistent with an impact on β-catenin levels and canonical WNT signaling. This is the first report of the association of variants and isolated dental anomalies.
Topics: Humans; Tooth Abnormalities; Female; Male; Wnt Signaling Pathway; Pedigree; Child; Exome Sequencing; Adolescent; Genetic Variation; beta Catenin; Adult; Co-Repressor Proteins
PubMed: 38791218
DOI: 10.3390/ijms25105179 -
Cureus Apr 2024Congenital partial hypodontia is a commonly encountered disorder, presenting a challenge for adolescents seeking treatment, as existing options often come with...
Congenital partial hypodontia is a commonly encountered disorder, presenting a challenge for adolescents seeking treatment, as existing options often come with drawbacks. Among these options, the Maryland Bridge stands out for its accessibility and notable benefits in terms of both strength and aesthetics. This article explores the merits of this treatment modality, supported by a detailed case study demonstrating its successful application. An 18-year-old patient was referred to our hospital with a complaint of missing bilateral maxillary incisors. Upon clinical examination, it became apparent that the orthodontic treatment was done and exhibited the absence of bilateral incisors in the upper arch. Subsequent diagnosis confirmed congenital partial hypodontia. To address the missing teeth, a treatment plan centered around the use of a Maryland Bridge was devised. One of the persistent challenges faced by restorative dentists is devising solutions for congenitally missing lateral incisors. Despite the availability of numerous therapeutic alternatives, none are without their limitations. However, the outcome of the rehabilitation in this case proved to be notably aesthetically pleasing, effectively fulfilling the intended purpose. As a result, this article advocates for the Maryland Bridge as a viable option for patients facing similar dental challenges.
PubMed: 38765372
DOI: 10.7759/cureus.58349 -
Human Genome Variation May 2024Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel...
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
PubMed: 38755172
DOI: 10.1038/s41439-024-00277-w -
Frontiers in Dentistry 2024Hypodontia is the most common dental developmental disorder. Several underlying mechanisms have been proposed to be involved in its pathogenesis. Occurrence of...
Hypodontia is the most common dental developmental disorder. Several underlying mechanisms have been proposed to be involved in its pathogenesis. Occurrence of hypodontia as an isolated trait due to genetic mutations has also been reported. Hypodontia most commonly involves the mandibular premolars, maxillary lateral incisors and second premolars. However, hypodontia of permanent second molars is a rare occurrence. To the best of the author's knowledge, only two studies on orthodontic patients have reported hypodontia of permanent second molars in Iran. This case report describes non-syndromic bilateral missing of permanent mandibular second molars in a 10-year-old child. Clinical examination revealed no systemic underlying condition, and no clinical evidence of any syndrome, or hereditary or familial pattern. Due to the potential impact of hypodontia on the function of dentition, prompt management of hypodontia is imperative. Furthermore, due to the possible mutations associated with hypodontia, additional screening for cancer susceptibility may be recommended.
PubMed: 38742222
DOI: 10.18502/fid.v21i8.15004 -
Journal of Oral Biology and... 2024Dental Agenesis is the usual developmental dental anomaly involving both primary and permanent dentition but most commonly it affects the permanent teeth. Genetic...
INTRODUCTION
Dental Agenesis is the usual developmental dental anomaly involving both primary and permanent dentition but most commonly it affects the permanent teeth. Genetic mutations in genes like MSX, PAX9,TGFA and AXIN2 are the likely primary contributors to tooth agenesis. Identifying the prevalence and distribution of congenital missing teeth allows for early detection and intervention which is crucial for preventing or mitigating potential dental issues that may arise due to missing teeth.
AIM & OBJECTIVES
To assess the prevalence and distribution of congenitally missing teeth across different quadrants of the jaw among patients visiting to the Dental out patient department at Tertiary Care Centre of Lucknow city.
MATERIAL & METHOD
A Questionnaire and orthopantomogram based cross-sectional study was conducted on both male and female patients aged between 15 and 30 years, coming for evaluation of their dental health problems to the hospital. Written informed consent was obtained.
RESULTS
The overall prevalence of CMT was found to be 33.3 %. The significant difference was observed in proportion of CMT between Maxilla and Mandible sites (p = 0.008). Higher prevalence was in females compared to males for both maxillary and mandibular congenital missing teeth. (p = 0.020).
CONCLUSION
The most common CMT were third molars followed by lateral incisors. The insights derived from the study would aid dental professional in gaining a deeper comprehension of tooth agenesis.
PubMed: 38736972
DOI: 10.1016/j.jobcr.2024.04.005 -
Clinical Oral Investigations May 2024This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to...
OBJECTIVE
This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to hypodontia and hyperdontia. The aim was to explore this association while adjusting for age and sex differences.
MATERIALS AND METHODS
A total of 144 children (aged 8-10) were categorized into hypodontia (n = 48), hyperdontia (n = 48), and control groups (n = 48). Clinical and radiographic diagnoses were used to classify tooth number anomalies. Hypodontia was categorized by number and location, while hyperdontia was categorized by number, shape, and location. FP were assessed using the Denver Papillae Protocol. Data analyses were performed using NCSS software, with p < 0.05 considered statistically significant.
RESULTS
The hypodontia group (22.5 ± 8.4) exhibited significantly lower FP than the control group (30.4 ± 9.2) and the hyperdontia group (27.9 ± 7.8) (p < 0.0005, p = 0.003, respectively). No significant difference existed between the hyperdontia and control groups. FP numbers in hypodontia subgroups showed no significant differences based on teeth agenesis numbers or locations. Similarly, hyperdontia subgroup analyses revealed no significant differences in FP numbers based on supernumerary teeth shapes (supplemental, conical, tuberculoid, paramolar) or the numbers of supernumerary teeth.
CONCLUSIONS
The lower FP numbers in children with hypodontia suggested an association between teeth and FP number. However, the non-significant difference in FP numbers with hyperdontia underscored the complexity of tooth development, warranting further investigations.
CLINICAL RELEVANCE
Children with hypodontia may exhibit distinct FP numbers compared to those without tooth number anomalies.
Topics: Humans; Female; Cross-Sectional Studies; Male; Child; Anodontia; Tooth, Supernumerary
PubMed: 38700604
DOI: 10.1007/s00784-024-05696-1 -
Annals of Clinical and Translational... May 2024While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A...
While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.1909+22 variant. One of these patients showed expanded phenotypic spectrum of generalised dystonia and her sister remained asymptomatic except for hypodontia. Two patients with dystonic arm tremor responded to deep brain stimulation. In our systemic literature review, we found that POLR3A-related disorder with c.1909+22 variant has attenuated disease severity but frequency of dystonia and upper limb tremor did not differ among genotypes.
PubMed: 38700104
DOI: 10.1002/acn3.52064 -
Journal of Clinical Medicine Apr 2024: Dental Anomaly Pattern (DAP) is a collection of morphologic, numeric, and eruptive anomalies of teeth that are often observed together, suggesting a potential genetic...
Potential Association of Molar-Incisor Hypomineralization (MIH) with Dental Agenesis and Infraoccluded Deciduous Molars: Is MIH Related to Dental Anomaly Pattern (DAP)? An Observational Cross-Sectional Study.
: Dental Anomaly Pattern (DAP) is a collection of morphologic, numeric, and eruptive anomalies of teeth that are often observed together, suggesting a potential genetic relationship. Our objective was to assess the potential associations of Molar-Incisor Hypomineralization (MIH), a common developmental defect of enamel mineralization with a controversial etiology, with two specific components of DAP: (1) agenesis (AG) and (2) infraoccluded deciduous molars (IODM). Establishing such an association between MIH and one or both anomalies would provide evidence supporting a genetic link between MIH and DAP. : We examined pretreatment intraoral standardized photographies and panoramic radiographs from 574 children aged 8-14 years, 287 having MIH and 287 without MIH, comparing the frequencies of AG and IODM in both groups. The subject samples were sourced from the databases of the orthodontic department at a university hospital. The frequencies of AG in the MIH and non-MIH groups were 7% and 8%, respectively ( = 0.751). The corresponding frequencies of IODM were 27% and 19.2%, respectively ( = 0.082). That is, children with MIH did not exhibit an increased frequency of AG or IODM compared to those without MIH. These findings do not support the inclusion of MIH in DAP. Nevertheless, further analysis of possible associations is necessary to definitively validate or invalidate this hypothesis.
PubMed: 38673718
DOI: 10.3390/jcm13082445 -
Journal of Personalized Medicine Mar 2024Dental agenesis is one of the most common developmental anomalies in humans and it is frequently associated with several other oral abnormalities. The present case...
Dental agenesis is one of the most common developmental anomalies in humans and it is frequently associated with several other oral abnormalities. The present case describes non-familial agenesis of permanent teeth in a twenty-one-year-old boy with no apparent systemic abnormalities. The treatment included a personalized and interdisciplinary approach involving endodontics, orthodontics, implant-supported restorations and prosthetic treatments. The treatment plan was thoroughly elaborated using photographic analysis, study models, orthopantomogram, CBCT and cephalograms. Virtual smile design, diagnostic waxing and mock-ups previsualized the treatment objectives. The edentulous spaces were reconstructed by inserting dental implants and monolithic zirconia implant-supported restorations. The final results showed a highly esthetic and functional rehabilitation. Periodic check-ups have shown that the stability of the result is well maintained and that the implant-supported restorations are an optimal solution for patients with multiple anodontia.
PubMed: 38672977
DOI: 10.3390/jpm14040350