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Human Mutation May 2021Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families...
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the matrix metallopeptidase 20 (MMP20) gene that were predicted to be pathogenic. MMP20 encodes a protease that cleaves the developing extracellular enamel matrix and is necessary for normal enamel crystal growth during amelogenesis. New homozygous missense changes were shared between four families of Pakistani heritage (c.625G>C; p.(Glu209Gln)) and two of Omani origin (c.710C>A; p.(Ser237Tyr)). In two families of UK origin and one from Costa Rica, affected individuals were homozygous for the previously reported c.954-2A>T; p.(Ile319Phefs*19) variant. For each of these variants, microsatellite haplotypes appeared to exclude a recent founder effect, but elements of haplotype were conserved, suggesting more distant founding ancestors. New compound heterozygous changes were identified in one family of the European heritage: c.809_811+12delinsCCAG; p.(?) and c.1122A>C; p.(Gln374His). This report further elucidates the mutation spectrum of MMP20 and the probable impact on protein function, confirms a consistent hypomaturation phenotype and shows that mutations in MMP20 are a common cause of autosomal recessive AI in some communities.
Topics: Amelogenesis Imperfecta; Founder Effect; Homozygote; Humans; Matrix Metalloproteinase 20; Pedigree
PubMed: 33600052
DOI: 10.1002/humu.24187 -
European Archives of Paediatric... Dec 2022Amelogenesis imperfecta (AI) is a hereditary condition which affects the composition and structure of enamel in terms of hypoplasia and/or hypomineralization. The...
PURPOSE
Amelogenesis imperfecta (AI) is a hereditary condition which affects the composition and structure of enamel in terms of hypoplasia and/or hypomineralization. The condition severely affects patients facing such difficulties as hypersensibility, loss of tooth substance and poor aesthetics. The objective is to perform a systematic review of patient-reported outcome measures (PROMs) in patients with amelogenesis imperfecta.
METHODS
Inclusion criteria were articles written in English, including PROMs from patients with amelogenesis imperfecta. The databases PubMed, Scopus and Web of Science were searched on April 27, 2022, and eligible articles were screened. Exclusion criteria were articles based on proxy reports and single case reports.
RESULTS
405 studies were screened in terms of title and abstract, with 31 articles eligible for full-text screening, resulting in a total of 11 articles eligible for inclusion, (articles including 4-82 patients). The content was analyzed, resulting in the outcome divided into seven domains: Oral Health-Related Quality of Life (OHRQoL), Dental fear, Esthetics, Psychosocial factors, Function, Dental hypersensitivity, and Treatment outcome.
CONCLUSION
The limited quantity of research on PROMS from patients with AI indicates a significant impact of OHRQoL and daily life. A large variety of approaches have been presented in the articles. Patients report concerns of esthetics, hypersensitivity, function, and a general impact on well-being and social interaction. This highlights the importance for the need of early dental treatment.
PROSPERO REGISTRATION NUMBER
256875.
Topics: Humans; Amelogenesis Imperfecta; Quality of Life; Dental Enamel; Patient Reported Outcome Measures
PubMed: 35896941
DOI: 10.1007/s40368-022-00737-3 -
Journal of Clinical Medicine Jun 2023Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB). (Review)
Review
BACKGROUND
Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB).
OBJECTIVES
To evaluate the craniofacial characteristics in individuals with AI.
MATERIAL AND METHODS
A systematic literature search was conducted with the PubMed, Web of Science, Embase and Google Scholar databases to identify studies relating to the cephalometric characteristics of individuals with AI, without any language or publication date restrictions. The grey literature was searched using Google Scholar, Opengrey and Worldcat. Only studies with a suitable control group for comparison were included. Data extraction and a risk of bias assessment were carried out. A meta-analysis was performed using the random effects model for cephalometric variables that were evaluated in at least three studies.
RESULTS
The initial literature search yielded 1857 articles. Following the removal of duplicates and a screening of the records, seven articles were included in the qualitative synthesis, representing a total of 242 individuals with AI. Four studies were included in the quantitative synthesis. The meta-analysis results showed that individuals with AI present a smaller SNB angle and larger ANB angle than those of control groups in the sagittal plane. In the vertical plane, those with AI present a smaller overbite and larger intermaxillary angle than those without AI. No statistically significant differences were found for the SNA angle when comparing the two groups.
CONCLUSIONS
Individuals with AI seem to present with more vertical craniofacial growth, leading to an increased intermaxillary angle and decreased overbite. This possibly leads to a more retrognathic mandible with a larger ANB angle due to an anticipated posterior mandibular rotation.
PubMed: 37298021
DOI: 10.3390/jcm12113826 -
International Journal of Clinical... 2022Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discoloration and enamel breakdown, requiring...
UNLABELLED
Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discoloration and enamel breakdown, requiring lifelong dental care. Distal renal tubular acidosis (dRTA) is a condition in which the kidneys are unable to acidify the urine to a pH < 5.5 in the presence of systemic metabolic acidosis. Management of AI and dRTA patients requires both medical and dental expertise to achieve long-term successful results. The aim of this paper is to present the dental management of a child with AI and dRTA.
HOW TO CITE THIS ARTICLE
Nadaf N, Krishnapriya V, Chandra A, Amelogenesis Imperfecta and Distal Renal Tubular Acidosis. Int J Clin Pediatr Dent 2022;15(1):121-123.
PubMed: 35528488
DOI: 10.5005/jp-journals-10005-2171 -
Gaceta Medica de Mexico 2019Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents... (Review)
Review
Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords "AMELX", "amelogenin", "amelogenesis imperfecta" and "AMELX mutation". Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined.
Topics: Amelogenesis Imperfecta; Amelogenin; Dental Enamel; Humans; Mutation; Phenotype
PubMed: 30799455
DOI: 10.24875/GMM.18003604 -
JMIR Research Protocols Nov 2021Enamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta, failed tooth eruption, intrapulpal...
BACKGROUND
Enamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta, failed tooth eruption, intrapulpal calcifications, gingival enlargement, and nephrocalcinosis. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized.
OBJECTIVE
This scoping review aims to account for the range and current state of knowledge on ERS and synthesize these findings into a comprehensive summary, focusing on the pathophysiology, genotype-phenotype correlations, and patient management from a dental perspective.
METHODS
The authors will conduct a systematic search of PubMed (MEDLINE), BioMed Central, EbscoHost Web, Web of Science, and WorldCat. We will include all studies with human participants with a confirmed diagnosis of ERS. Articles will be screened in two stages (ie, initially by title and abstract screening and then full-text screening by two independent reviewers). Data extraction will be conducted using a customized electronic data extraction form. We will provide a narrative synthesis of the findings from the included studies. We will structure the results according to themes.
RESULTS
This protocol is registered with the Open Science Framework. The electronic search was conducted in July 2020 and updated in April 2021. The research findings will be published in an open access journal.
CONCLUSIONS
Dentists should be able to identify patients with clinical features of ERS so that they receive appropriate referrals for renal evaluation, genetic counseling, and oral rehabilitation to increase the patient's quality of life. A scoping review is the most appropriate method to conduct this comprehensive exploration of the current evidence, which may be sparse due to the rarity of the condition. It will also enable us to identify gaps in the research.
TRIAL REGISTRATION
Open Science Framework; https://osf.io/cghsa.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID)
DERR1-10.2196/29702.
PubMed: 34851300
DOI: 10.2196/29702 -
British Dental Journal Sep 2021Background Amelogenesis imperfecta (AI) is a genetic enamel defect that can affect both the primary and permanent dentition. It has a range of clinical phenotypes, and...
Background Amelogenesis imperfecta (AI) is a genetic enamel defect that can affect both the primary and permanent dentition. It has a range of clinical phenotypes, and children and young people often present with challenging oral health needs. Patient-reported outcome measures (PROMs) can identify key patient concerns.Methods This was a multi-centre service evaluation across several specialist paediatric dentistry services in the UK. A PROM questionnaire was created with clinician and patient input, through peer review with the national AI Clinical Excellence Network, as well as piloting the PROM with ten children and young people with AI. The final PROM questionnaire was distributed to all patients with AI attending each unit between January and March 2020.Results Sixty children and young people (aged 5-17 years) across four specialist units participated, with 72% reporting that they 'often' or 'sometimes' experienced pain or sensitivity and 76% reporting that they 'often' or 'sometimes' felt unhappy with the way their teeth look. Of the patients who were post-treatment, 81% indicated that they were happy with their teeth, compared to just 41% of patients who were mid-treatment and 33% of patients who were pre-treatment.Conclusion Children and young people with AI experience a range of issues related to their function and psychosocial wellbeing. This simple PROM demonstrates the range of issues this group of patients face, and could be used to monitor an individual's progress to ensure that treatment is planned to address the patient's individual concerns and needs.
PubMed: 34489543
DOI: 10.1038/s41415-021-3329-9 -
Developmental Dynamics : An Official... Oct 2021Mutation in Odontogenesis-associated phosphoprotein (ODAPH) has been reported to cause recessive hypomineralized amelogenesis imperfecta (AI) in human. However, the...
BACKGROUND
Mutation in Odontogenesis-associated phosphoprotein (ODAPH) has been reported to cause recessive hypomineralized amelogenesis imperfecta (AI) in human. However, the exact role of ODAPH in amelogenesis is still unknown.
RESULTS
ODAPH was identified as a novel constituent of the atypical basal lamina located at the interface between maturation ameloblasts and the enamel by dual immunofluorescence staining of ODAPH and LAMC2. Odaph knockout mice were generated to explore the function of ODAPH in amelogenesis. Odaph mice teeth showed severely attrition and reduced enamel mineralization. Histological analysis showed from transition or early-maturation stage, ameloblasts were rapidly shortened, lost cell polarity, and exhibited cell pathology. Abundant enamel matrix marked by amelogenin was retained. Temporary cyst-like structures were formed between flattened epithelial cells and the enamel from maturation stage to eruption. The integrity of the atypical basal lamina was impaired indicated by the reduced diffuse expression of LAMC2 and AMTN. The expression of maturation stage related genes of Amtn, Klk4, Integrinβ6 and Slc24a4 were significantly decreased.
CONCLUSIONS
Our results suggested Odaph played vital roles during amelogenesis by maintaining the integrity of the atypical basal lamina in maturation stage, which may contribute to a better understanding of the pathophysiology of human AI.
Topics: Ameloblasts; Amelogenesis; Animals; Dental Enamel; Extracellular Matrix Proteins; Laminin; Mice; Mice, Knockout; Phosphoproteins
PubMed: 33772937
DOI: 10.1002/dvdy.336 -
World Journal of Clinical Cases Jan 2015Superficial stains and irregularities of the enamel are generally what prompt patients to seek dental intervention to improve their smile. These stains or defects may be... (Review)
Review
Superficial stains and irregularities of the enamel are generally what prompt patients to seek dental intervention to improve their smile. These stains or defects may be due to hypoplasia, amelogenesis imperfecta, mineralized white spots, or fluorosis, for which enamel microabrasion is primarily indicated. Enamel microabrasion involves the use of acidic and abrasive agents, such as with 37% phosphoric acid and pumice or 6% hydrochloric acid and silica, applied to the altered enamel surface with mechanical pressure from a rubber cup coupled to a rotatory mandrel of a low-rotation micromotor. If necessary, this treatment can be safely combined with bleaching for better esthetic results. Recent studies show that microabrasion is a conservative treatment when the enamel wear is minimal and clinically imperceptible. The most important factor contributing to the success of enamel microabrasion is the depth of the defect, as deeper, opaque stains, such as those resulting from hypoplasia, cannot be resolved with microabrasion, and require a restorative approach. Surface enamel alterations that result from microabrasion, such as roughness and microhardness, are easily restored by saliva. Clinical studies support the efficacy and longevity of this safe and minimally invasive treatment. The present article presents the clinical and scientific aspects concerning the microabrasion technique, and discusses the indications for and effects of the treatment, including recent works describing microscopic and clinical evaluations.
PubMed: 25610848
DOI: 10.12998/wjcc.v3.i1.34 -
PloS One 2017Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified...
Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified to result in autosomal dominant hypocalcified amelogenesis imperfecta in different populations. However, the structure and function of FAM83H and its pathological mechanism have yet to be further explored. Evolutionary analysis is an alternative for revealing residues or motifs that are important for protein function. In the present study, we chose 50 vertebrate species in public databases representative of approximately 230 million years of evolution, including 1 amphibian, 2 fishes, 7 sauropsidas and 40 mammals, and we performed evolutionary analysis on the FAM83H protein. By sequence alignment, conserved residues and motifs were indicated, and the loss of important residues and motifs of five special species (Malayan pangolin, platypus, minke whale, nine-banded armadillo and aardvark) was discovered. A phylogenetic time tree showed the FAM83H divergent process. Positive selection sites in the C-terminus suggested that the C-terminus of FAM83H played certain adaptive roles during evolution. The results confirmed some important motifs reported in previous findings and identified some new highly conserved residues and motifs that need further investigation. The results suggest that the C-terminus of FAM83H contain key conserved regions critical to enamel formation and calcification.
Topics: Amelogenesis Imperfecta; Amino Acid Motifs; Amphibians; Animals; Biological Evolution; Conserved Sequence; Dental Enamel; Fishes; Gene Expression; Humans; Mammals; Mutation; Phylogeny; Proteins; Reptiles; Sequence Alignment; Sequence Homology, Amino Acid
PubMed: 28683132
DOI: 10.1371/journal.pone.0180360