OBJECTIVE: To analyze RELT gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype. METHODS: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene. Whole exome sequencing (WES) was performed to analyze the possible pathogenic genes, and Sanger sequencing was performed for validation. SIFT and PolyPhen-2 were used to predict and analyze the mutation effect. Comparison of RELT amino acids across different species were performed by using Uniprot website. In addition, the three-dimen-sional structures of the wild type and mutant proteins were predicted by Alphafold 2. RESULTS: The proband exhibited typical hypocalcified AI, with heavy wear, soft enamel, rough and discolored surface, and partial enamel loss, while his parents didn ' t have similar manifestations. WES and Sanger sequencing results indicated that the proband carries a homozygous frameshift mutation in RELT gene, NM_032871.3: c.1169_1170del, and both of his parents were carriers. This mutation was predicted to be pathogenic by SIFT and PolyPhen-2. Up to now, there were 11 mutation sites in RELT gene were reported to be associated with AI, and all of the patients exhibited with hypocalcified AI. Compared with the wild-type RELT protein, the mutant protein p. Pro390fs35 conformation terminated prematurely, affecting the normal function of the protein. CONCLUSION Through phenotype analysis, gene sequencing, and functional prediction of a Chinese family with typical amelogenesis imperfecta, this study found that RELT gene frameshift mutation can lead to protein dysfunction in AI patients. Further research will focus on the role and mechanism of RELT in enamel development at the molecular and animal levels, providing molecular biology evidence for the genetic counseling, prenatal diagnosis, and early prevention and treatment of AI.
Humans ; Amelogenesis Imperfecta/genetics* ; Frameshift Mutation ; Male ; Pedigree ; Female ; China ; Exome Sequencing ; Phenotype ; Adult

Patients with Down's syndrome have several dental complications such as small teeth caused by underdevelopment of dentin and enamel, periodontitis, agenesis of teeth, prolonged retention of primary teeth and malocclusion due to narrow palate. Removable denture with maxillary double crowns would be a good treatment option to solve the problems of the patient with Down's syndrome. Double crowns compensate the insufficient support and retention of denture and easily solve the cross bite problem. Double crowns also allow easy repair of denture in case of abutment teeth extraction. In this case, 26-year-old female patient with Down's syndrome and dental phobia had small number of teeth with enamel hypoplasia, prolonged retention of primary teeth and dental cross bite. Prosthetic treatment was done using removable denture with double crowns in the maxilla. In the mandible, teeth preparation was done on enamel margin without anesthesia. Anterior laminate and posterior complete zirconia crown restorations were performed. As a result, the cross bite was effectively corrected by denture with double crowns. Pronunciation and appearance were also improved without extraction of teeth and dental anesthesia.
Adult ; Anesthesia ; Anesthesia, Dental ; Crowns* ; Dental Anxiety ; Dental Enamel ; Dental Enamel Hypoplasia ; Dentin ; Denture, Partial ; Dentures* ; Down Syndrome* ; Female ; Humans ; Malocclusion* ; Mandible ; Maxilla ; Palate ; Periodontitis ; Tooth ; Tooth, Deciduous

Dyke-Davidoff-Masson syndrome is a non-inherited rare condition that presents during childhood and is characterized by seizures, hemiplegia, mental retardation, cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. The present article highlights a case of a 12-year-old male child with additional clinical findings of café-au-late pigmentation and ocular lipodermoid. This is the first case report of Dyke-Davidoff-Masson syndrome to describe oral manifestations, such as unilateral delayed eruption of teeth, hypoplasia, and taurodontism, which could be unique and characteristic of this condition. Oral health care providers and physicians should be aware of these oral observations as dental referrals could warrant early dental prophylactic care and can be useful in diagnosing the possible time of injury and type of Dyke-Davidoff-Masson syndrome.
Child ; Dental Enamel Hypoplasia ; Frontal Sinus ; Hemiplegia ; Humans ; Intellectual Disability ; Male ; Open Bite ; Oral Health ; Oral Manifestations* ; Pigmentation ; Referral and Consultation ; Seizures ; Tooth

BACKGROUND: Molar incisor hypomineralization (MIH) frequently occurs in children worldwide. However, MIH prevalence throughout Japan has not yet been investigated. The purpose of this study was to clarify MIH prevalence rates and to consider potential regional differences throughout Japan. METHODS: A total of 4496 children aged 7-9 years throughout Japan were evaluated in this study. MIH prevalence rates among children were evaluated in eight regions throughout Japan. A child's residence was defined as the mother's residence during pregnancy. The localization of demarcated opacities and enamel breakdown was recorded on a standard code form using a guided record chart. Logistic regression analysis was used to evaluate whether MIH prevalence rates differed among age groups, sex, and regions. RESULTS: The overall prevalence of MIH in Japan was 19.8%. The prevalence of MIH was 14.0% in the Hokkaido region, 11.7% in the Tohoku region, 18.5% in the Kanto Shin-Etsu region, 19.3% in the Tokai Hokuriku region, 22.3% in the Kinki region, 19.8% in the Chugoku region, 28.1% in the Shikoku region, and 25.3% in the Kyushu region. These regional differences were statistically significant. Moreover, MIH prevalence rates decreased with age. No significant sex differences in MIH prevalence rates were demonstrated. CONCLUSIONS To our knowledge, this is the first MIH study carried out in several regions throughout Japan. Regional differences existed in MIH prevalence rates; particularly, MIH occurred more frequently in children residing in southwestern areas than those in northeastern areas of Japan.
Child ; Dental Enamel Hypoplasia ; epidemiology ; etiology ; Female ; Humans ; Japan ; epidemiology ; Male ; Prevalence

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.
Adult ; Amelogenesis Imperfecta ; genetics ; Cells, Cultured ; China ; Codon ; Dentin ; abnormalities ; ultrastructure ; Female ; Humans ; Male ; Microsatellite Repeats ; Microscopy, Electron, Scanning ; Middle Aged ; Mutation, Missense ; Pedigree ; RNA ; analysis ; Transfection ; Whole Exome Sequencing

Amelogenesis imperfecta characterized as abnormally formed enamel is caused by a defect of unique group of genes. Patients affected by this disease might have difficulties in social and psychological aspects due to non-esthetic teeth as well as functional problems caused by enamel detachment and tooth wear from their early ages. Adult patients with amelogenesis imperfecta can be treated with full-mouth restorations, which make functional and esthetic rehabilitations of severely worn tooth. However, the anterior open bite and lack of occlusal clearance for posterior teeth restorations due to compensatory extrusion are the intervening factors in the prosthetic treatment. Therefore, the determination of anterior tooth lengths, vertical dimension, and anterior guidance should be set carefully. Recently, computer-aided design and computer-aided manufacturing (CAD/CAM) techniques help systematic approaches and enable dentists to reduce time-consuming procedures in the diagnosis and treatment of full-mouth rehabilitation. This case report demonstrates the successful full mouth rehabilitation using a CAD/CAM system in a young adult patient with amelogenesis imperfecta and anterior open bite.
Adult ; Amelogenesis Imperfecta* ; Amelogenesis* ; Computer-Aided Design ; Dental Enamel ; Dentists ; Diagnosis ; Humans ; Mouth Rehabilitation ; Open Bite* ; Rehabilitation* ; Tooth ; Tooth Wear ; Vertical Dimension ; Young Adult

Enamel microabrasion has become accepted as a conservative, nonrestorative method of removing intrinsic and superficial dysmineralization defects from dental fluorosis, restoring esthetics with minimal loss of enamel. However, it can be difficult to determine if restoration is necessary in dental fluorosis, because the lesion depth is often not easily recognized. This case report presents a method for analysis of enamel hypoplasia that uses quantitative light-induced fluorescence (QLF) followed by a combination of enamel microabrasion with carbamide peroxide home bleaching. We describe the utility of QLF when selecting a conservative treatment plan and confirming treatment efficacy. In this case, the treatment plan was based on QLF analysis, and the selected combination treatment of microabrasion and bleaching had good results.
Dental Enamel Hypoplasia ; Dental Enamel* ; Enamel Microabrasion* ; Esthetics ; Fluorescence* ; Fluorosis, Dental* ; Methods ; Treatment Outcome ; Urea

Dental pathology has the potential to provide insight into the interpretation of the health and life style of past population. In particular, dental pathologies are strongly correlated to subsistence pattern, diet habits and food-preparation techniques. For this reason, my studies have focused on analyses of dental diseases (e.g., caries, abscesses, ante-mortem tooth loss, enamel hypoplasia, dental attrition, and periodontal diseases). The purpose of this study is to investigate the prevalence of dental pathologies of the Imdang population dating to between A.D. 3rd and A.D. 7th centuries (Three Kingdoms Period). In this study, through a macroscopic observation of dental remains from 138 individuals of the Imdang site, the prevalence of caries, abscess and ante-mortem tooth loss was examined. The association between sex, age and the frequencies of pathology was analyzed by the Chi-square tests. The results showed that the frequency of dental pathologies was consistently low level in Imdang population. Caries prevalence in the Imdang population was higher in females (6.15%) that in males (4.89). Among dental pathologies, abscess prevalence (0.7%) was lowest in Imdang population. Meanwhile, AMTL prevalence was 10.81% in males and 3.8% in females. There is a statistically significant difference between the anterior teeth of males and females (p<0.05). This study revealed that the rate of dental caries, abscess and AMTL in the Three Kingdoms Period population was relatively low level. This study is the first report of the patterns of dental pathologies in the Three Kingdoms Period population. It is necessary to investigate more number of pathologic markers that needed for deeper understanding of the multi-faceted nature of dental pathologies of ancient populations.
Abscess ; Dental Caries ; Dental Enamel Hypoplasia ; Female ; Food Habits ; Gyeongsangbuk-do* ; Humans ; Korea* ; Life Style ; Male ; Pathology* ; Prevalence ; Stomatognathic Diseases ; Tooth ; Tooth Loss

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.
Amelogenesis Imperfecta* ; Amelogenesis* ; Cone-Beam Computed Tomography ; Dental Enamel Hypoplasia ; Dental Enamel* ; Dentists ; Fibromatosis, Gingival ; Humans ; Kidney Diseases ; Male ; Metabolic Diseases ; Nephrocalcinosis ; Nephrolithiasis* ; Phenotype ; Radiography ; Tooth ; Young Adult

PURPOSE: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 7- to 35-year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted on 1649 people in Hamadan City, in 2012-2013. The prevalence of four types and 12 subtypes of dental anomalies was evaluated by two observers separately by using panoramic radiography. Dental anomalies were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia); and (d) position (including displacement, impaction, and dilacerations). RESULTS: The reliability between the two observers was 79.56% according to the Kappa statistics. The prevalence of dental anomalies diagnosed by panoramic radiographs was 29%. Anomalies of position and number were the most common types of abnormalities, and anomalies of shape and structure were the least in both genders. Anomalies of impaction (44.76%), dilacerations (21.11%), hypodontia (15.88%), taurodontism (9.29%), and hyperdontia (6.76%) were the most common subtypes of dental anomalies. The anomalies of shape and number were more common in the age groups of 7-12 years and 13-15 years, respectively, while the anomalies of structure and position were more common among the other age groups. CONCLUSION: Anomalies of tooth position were the most common type of dental anomalies, and structure anomalies were the least in this Iranian population. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental anomalies.
Adult* ; Amelogenesis Imperfecta ; Anodontia ; Cross-Sectional Studies ; Dentin ; Dentinogenesis Imperfecta ; Dentition ; Humans ; Iran* ; Prevalence* ; Radiography, Panoramic ; Tooth