RESUMO
The extent of dental tissue destruction during the treatment of white spot lesions (WSLs) increases with the severity of the lesion. If the depth and shape of WSLs can be predicted with a noninvasive diagnostic method before dental caries treatment, more conservative interventions can be planned. Given the superiority of high-frequency ultrasound (HFUS) imaging in observing the internal structures of the body, the present study aimed to verify the possibility of HFUS imaging to examine the depth and shape of WSLs. We prepared tooth samples and developed a biomicroscopic system with a HFUS transducer to obtain images of normal and WSL regions. HFUS images were compared with conventional ultrasound images and micro-computed tomography images. HFUS distinctly differentiated demineralization within WSL and normal regions. WSL depth calculated in the micro-computed tomography image was similar to that in HFUS. This study revealed that HFUS imaging has the potential to detect early dental caries and offer information on the invasion depth of early dental caries quantitatively.
Assuntos
Cárie Dentária , Ultrassonografia , Algoritmos , Humanos , Microtomografia por Raio-XRESUMO
OBJECTIVE: To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility, and root resorption. SUBJECTS AND METHODS: DNA samples were collected from a trio of family members, and whole-exome sequencing was performed. RESULTS: Mutational analysis revealed a de novo mutation (c.6787C>T) in the last exon of the NOTCH2 gene. This mutation would introduce a premature stop codon [p.(Gln2263*)] and generate a truncated protein without C-terminus, escaping from the nonsense-mediated decay system. Sanger sequencing confirmed that this mutation was generated spontaneously. CONCLUSIONS: In this study, we identified a novel nonsense mutation in the last exon of the NOTCH2 gene causing Hajdu-Cheney syndrome. We described the genotype and phenotype correlation and the related dental complications. These results will advance the understanding of the NOTCH2 signaling in periodontitis and root resorption.
Assuntos
Síndrome de Hajdu-Cheney/genética , Receptor Notch2/genética , Adolescente , Criança , Pré-Escolar , Códon sem Sentido , Feminino , Síndrome de Hajdu-Cheney/complicações , Síndrome de Hajdu-Cheney/diagnóstico , Humanos , Má Oclusão/etiologia , Reabsorção da Raiz/etiologia , Mobilidade Dentária/etiologiaRESUMO
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth. Family 2 had a nonsense mutation in the last exon, c.1842C>G, p.(Tyr614*), that was predicted to truncate the protein by 500 amino acids. Participating individuals had at least 1 mutant allele, while the proband had a homozygous mutation. Most interestingly, the clinical phenotype of the individuals harboring the heterozygous mutation varied from a lack of penetrance to a mild hypoplastic enamel defect. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.
Assuntos
Amelogênese Imperfeita/genética , Proteínas da Matriz Extracelular/genética , Mutação/genética , Criança , Consanguinidade , Feminino , Humanos , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Turquia , Sequenciamento do Exoma , Adulto JovemRESUMO
Occurrence of temporomandibular disorders (TMDs) and temporomandibular joint (TMJ) osteoarthritis (OA) during adolescence may have interactions with mandibular and dental development. The aim of the present study was to investigate relationships between occurrence of TMD and TMJ OA and extents of dental and skeletal development in juvenile female patients. In total, 95 female adolescents (age range, 11-15 years) were selected. Among them, 15 subjects (control) had no signs of TMD, 39 TMD patients did not have OA (TMDnoOA), 17 TMD patients were at initial stage of TMJ OA (TMJOA), and 27 patients showed progressive stage of TMJ OA (TMJOA). Dental age was estimated by Demirjian's stages used in a previous study with Korean adolescents. Craniofacial parameters and cervical vertebrae maturation (CVM) stages, representing skeletal maturity levels, were measured using lateral cephalograms. The estimated dental age was significantly lower than chronological age in all groups, but CVM differences were not statistically significant. Dental age was the lowest, and differences between the chronological age and estimated dental age were the highest among initial stage of TMJOAs followed by progressive stage of TMJOAs, TMDnoOAs and control and were not associated with CVM stages. Cephalometric parameters revealed significant clockwise rotation of the mandible among the TMJOAs compared with controls and TMDnoOAs and were not associated with CVM stages as well. The juvenile female patients with TMD, particularly TMJ OA, showed retarded dental development, mandibular backward positioning and hyperdivergent facial profiles. The TMJ OA may be associated with retarded dental development but not with skeletal maturations.
Assuntos
Desenvolvimento Ósseo/fisiologia , Cefalometria , Osteoartrite/fisiopatologia , Radiografia Panorâmica , Disco da Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/fisiopatologia , Adolescente , Fatores Etários , Análise de Variância , Criança , Estudos Transversais , Feminino , Humanos , Osteoartrite/diagnóstico por imagem , Disco da Articulação Temporomandibular/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/complicações , Transtornos da Articulação Temporomandibular/diagnóstico por imagemRESUMO
OBJECTIVE: To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI). SUBJECTS AND METHODS: DNA samples were collected from a six-generation family, and the candidate gene approach was used to screen for the enamelin (ENAM) gene. Whole-exome sequencing and linkage analysis with SNP array data identified linked regions, and candidate gene screening was performed. RESULTS: Mutational analysis revealed a mutation (c.561_562delCT and p.Tyr188Glnfs*13) in the DLX3 gene. After finding a recurrent DLX3 mutation, the clinical phenotype of the family members was re-examined. The proband's mother had pulp elongation in the third molars. The proband had not hair phenotype, but her cousin had curly hair at birth. CONCLUSIONS: In this study, we identified a recurrent 2-bp deletional DLX3 mutation in a new family. The clinical phenotype was the mildest one associated with the DLX3 mutations. These results will advance the understanding of the functional role of DLX3 in developmental processes.
Assuntos
Amelogênese Imperfeita/genética , Sequência de Bases , Proteínas de Homeodomínio/genética , Deleção de Sequência , Fatores de Transcrição/genética , Adulto , Amelogênese Imperfeita/diagnóstico por imagem , Criança , Análise Mutacional de DNA , Exoma , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Radiografia DentáriaAssuntos
Amelogênese Imperfeita/genética , Amelogênese Imperfeita/patologia , Moléculas de Adesão Celular/genética , Epidermólise Bolhosa Juncional/genética , Sequência de Bases , Criança , Pré-Escolar , Feminino , Genes Dominantes/genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Análise de Sequência de DNA , Dente/patologia , CalininaRESUMO
Tooth enamel is the most highly mineralized tissue in vertebrates. Enamel crystal formation and elongation should be well controlled to achieve an exceptional hardness and a compact microstructure. Enamel matrix calcification occurs with several matrix proteins, such as amelogenin, enamelin, and ameloblastin. Among them, amelogenin is the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but well-conserved alternative splicing and postsecretional processing have been identified. In this report, we recruited a family with a unique enamel defect and identified a silent mutation in exon 4 of the AMELX gene. We show that the mutation caused the inclusion of exon 4, which is almost always skipped, in the mRNA transcript. We further show, by generating and characterizing a transgenic animal model, that the alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization.
Assuntos
Processamento Alternativo/genética , Amelogênese Imperfeita/genética , Amelogenina/genética , Sequência Conservada/genética , RNA Mensageiro/genética , Ameloblastos/patologia , Amelogênese Imperfeita/patologia , Animais , Criança , Cristalografia , Esmalte Dentário/patologia , Esmalte Dentário/ultraestrutura , Éxons/genética , Feminino , Ligação Genética , Vetores Genéticos/genética , Humanos , Íntrons/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos , Camundongos Transgênicos , Repetições de Microssatélites/genética , Mutação/genética , Fenótipo , Regiões Promotoras Genéticas/genética , Isoformas de Proteínas/genética , Transcrição Gênica/genéticaRESUMO
Oligodontia is the developmental absence of more than 5 permanent teeth except for the third molar. Familial oligodontia can occur as an isolated form or as part of a genetic syndrome. Mutations in the MSX1, PAX9, AXIN2, EDA, and WNT10A genes have been identified in familial non-syndromic oligodontia. Ectodermal dysplasia is a group of syndromes involving abnormalities of the ectodermal structures and is comprised of more than 150 different forms. Mutations in the ectodysplasin-A (EDA) gene have been associated with X-linked hypohidrotic ectodermal dysplasia, and partial disruption of the EDA signaling pathway has been shown to cause an isolated form of oligodontia. We identified 2 X-linked oligodontia families and performed mutational analysis of the EDA gene. The mutational analysis revealed 2 novel EDA mutations: c.866G>T, p.Arg289Leu and c.1135T>G, p.Phe379Val (reference sequence NM_001399.4). These mutations were perfectly segregated with oligodontia and curly hair within each family and were not found in the 150 control X-chromosomes with the same ethnic background and in the exome variant server. This study broadens the mutational spectrum of the EDA gene and the understanding of X-linked oligodontia with curly hair.
Assuntos
Anodontia/genética , Ectodisplasinas/genética , Cabelo/anormalidades , Mutação de Sentido Incorreto/genética , Arginina/genética , Criança , Pré-Escolar , Códon/genética , Sequência Conservada/genética , Exoma/genética , Frequência do Gene/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Variação Genética/genética , Guanina , Humanos , Leucina/genética , Masculino , Linhagem , Fenilalanina/genética , Transdução de Sinais/genética , Timina , Valina/genéticaRESUMO
AIM: To determine the underlying molecular genetic aetiology of a family with the hypocalcified form of amelogenesis imperfecta and to investigate the hardness of the enamel and dentine of a known FAM83H mutation. METHODOLOGY: Mutational screening of the FAM83H on the basis of candidate gene approach was performed. All exons and exon-intron boundaries was amplified and sequenced. A microhardness test was performed to measure the Vickers microhardness value. RESULTS: A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel. The affected enamel was extremely soft (about 17% of the normal control), but the underlying dentine was as hard as the normal control. CONCLUSIONS: Mutational analysis revealed a novel mutation in FAM83H gene. Hardness of dentine was not affected by the mutation, whilst the enamel was extremely soft.