A dentinogênese imperfeita (DGI) é um defeito hereditário da dentina caracterizado pela estrutura anormal da dentina, resultando no desenvolvimento anormal do dente.
Introdução
O que você precisa saber de cara
A dentinogênese imperfeita (DGI) é um defeito hereditário da dentina caracterizado pela estrutura anormal da dentina, resultando no desenvolvimento anormal do dente.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals
Secreted, extracellular space, extracellular matrix
Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta.
Variantes genéticas (ClinVar)
149 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 66 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Dentinogenesis imperfecta
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
The DSPP gene regulates dentin mineralisation, and its pathogenic variants cause a spectrum of defects ranging from dentin dysplasia (DD-II) to dentinogenesis imperfecta (DGI-II/III). Clinical variability often confounds diagnosis. This systematic review of 48 publications (70 variants, 99 records) delineates quantitative genotype-phenotype correlations. Results revealed distinct molecular clustering: Exon 5 harboured 61 % of variants, predominantly frameshifts disrupting the repetitive dentin phosphoprotein (DPP) domain. In contrast, upstream regions (exons 2-4) contained mixed variant types affecting the signal peptide and dentin sialoprotein (DSP). Statistical analysis established a definitive severity gradient. Exon 5 frameshifts were significantly associated with the milder DD-II, characterised by thistle-shaped pulps and clinically normal permanent dentition. Conversely, upstream signal peptide, splice site, and missense variants (exons 2-3) were linked to the severe DGI-III, manifesting as 'shell teeth', rapid attrition, and pulp exposure requiring complex prosthodontic intervention. DGI-II displayed no specific genomic clustering, representing an intermediate phenotype. These findings provide complementary insights to historical classifications, highlighting a continuous spectrum of DSPP disorders where upstream defects cause severe failure, while downstream defects result in attenuated localised anomalies. Consequently, integrating DSPP genotyping into diagnostic workflows is essential to predict disease progression, refine molecular taxonomy beyond the Shields system, and guide personalised rehabilitation.
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
Variants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). DSPP encodes a precursor protein cleaved into three dentin matrix proteins: dentin sialoprotein (DSP), dentin phosphoprotein/phosphophoryn (DPP) and dentin glycoprotein (DGP). Exon 5 contains over 200 tandem 9-base pair repeats (DSS domain), complicating sequencing with standard methods. We studied 112 individuals (42 index cases and 70 relatives) with clinical signs of DI or DD. DNA extracted from saliva was analysed using the GenoDENT next-generation sequencing panel. For inconclusive cases, long-range PCR and Oxford Nanopore Technology (ONT) long-read sequencing were used to overcome limitations in analysing the repetitive DSPP region. Pathogenic or likely pathogenic DSPP variants were identified in 41 families, including 8 known and 14 novel variants. Most were in exon 5, causing frameshifts resulting in a -1 reading-frame shift with a hydrophobic C-terminal extension and termination at a downstream stop codon. ONT sequencing enabled detection in cases where short-read methods failed. Several variants showed familial segregation and variable expressivity. This study demonstrates the value of long-read sequencing to resolve complex DSPP regions and expands the variant spectrum. The variability in clinical presentation suggests the influence of modifier factors, warranting further genotype-phenotype studies.
Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.
Dentinogenesis Imperfecta (DI) is a rare genetic disorder characterized by dentin hypomineralisation. While DI is known to impair dentin's mechanical properties of the tissue and cause multiple tooth fractures, the microstructural origins of dentin fragility remain poorly understood. To address this gap,we conducted a pilot study comparing primary healthy dentin (n=4 - four incisors) and dentin affected by DI associated with a COL1A2 variant (DI type I, n=4 - two canines and two molars) using thermogravimetry and backscattered electron scanning microscopy to quantify mineralization at macroscale and microscale. We further assessed mechanical properties using nanoindentation to evaluate the effect of mineralization changes. Unlike prior studies, we found that our DI group exhibits 8% higher mineralization of the bulk of the tissue; however shows a 34% reduction in effective nanohardness. At the microscale, the DI group displays profound mineralization heterogeneities with hypermineralized zones exhibiting twice the nanohardness of hypomineralized zones. Our findings show that cracks predominantly propagate in these hypermineralized zones in DI samples, particularly beneath the dentin-enamel junction, where cracks can cause enamel detachment. These findings suggest that, for the DI group with the COL1A2 variant studied, mineralization heterogeneities, rather than bulk mineral content, is the key determinant of fragility. They provide preliminary results to investigate the mechanistic origins of crack propagation of this DI phenotype, that could be further supported by broadening the sample size and ensuring tooth-type consistency.
A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.
Osteogenesis imperfecta (OI), or brittle bone disease, is a genetically inherited connective tissue syndrome that manifests through autosomal dominant or recessive patterns. We present an unusual case involving three siblings with the same father but different mothers. The patients had extremely short stature, recurrent fractures, and varying degrees of severity of OI, in addition to distinctive features such as blue sclera and dentinogenesis imperfecta. The radiographic skeletal surveys revealed the characteristic features of OI in all three siblings. The patients exhibited Wormian bones, multiple fractures with callus formation, bowing of the long bones, accordion ribs, platyspondyly, and kyphoscoliosis. The patients were admitted for inpatient administration of two doses of intravenous zoledronic acid, allowing for monitoring of potential adverse effects. At the 7-month follow-up, the patients reported a reduction in fractures and a notable improvement in their ability to perform daily activities, including the capacity to sit without assistance. The patients did not experience any significant adverse effects from the zoledronic acid. Radiology is vital for diagnosing OI as it highlights the unique skeletal patterns, assists in identifying the specific OI phenotype, and evaluates the severity, particularly when genetic testing is inaccessible.
A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
Osteogenesis imperfecta (OI) is a rare genetically heterogeneous connective tissue disorder primarily characterized by bone fragility, along with additional features such as blue sclerae, short stature, and dentinogenesis imperfecta. Although OI mainly presents an autosomal dominant inheritance pattern, over the past two decades, at least 17 genes have been implicated in autosomal recessive OI. In this study, we identified a novel homozygous non-coding variant, c.-167C > T, in the 5' untranslated region (5'UTR) of the SEC24D gene in a family with three affected individuals exhibiting a severe form of OI, craniofacial malformations and skull ossification defects. This is the first reported homozygous pathogenic non-coding variant in SEC24D, expanding the genetic landscape of OI. The variant is located in-frame with the opening reading frame and predicted to introduce a new upstream translation start codon (uATG) in the 5'UTR, disturbing the translational efficiency of the canonical initiation codon, a mechanism with direct implications for RNA-based therapeutic approach. Functional studies in patient-derived fibroblasts confirmed that SEC24D protein expression was significantly reduced while mRNA levels remained unchanged, suggesting a post-transcriptional regulatory mechanism. To address this translational defect, we designed and evaluated antisense oligonucleotides (ASOs) to modulate the translation of SEC24D. ASO treatment successfully increased SEC24D protein levels, demonstrating the potential of RNA-based therapies to modulate translation in genetic disorders caused by non-coding variants. Our findings provide a proof of concept for RNA-targeted therapeutics in OI, reinforcing the importance of investigating non-coding regions in genetic disease mechanisms. These results open new avenues for personalized RNA therapy in conditions linked to translational dysregulation.
Publicações recentes
Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource-Limited Setting: A Case Report.
Spatial Transcriptomics of Early Tooth Morphogenesis in Formalin-fixed Paraffin-embedded Mouse Embryonic Tissue.
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.
Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.
📚 EuropePMC337 artigos no totalmostrando 198
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
Journal of medical geneticsCalcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.
BMC oral healthMultiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.
Dental materials : official publication of the Academy of Dental MaterialsSplicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.
BMC oral healthA radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.
Radiology case reportsBeyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
The Japanese dental science reviewClinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting - A case report and review of literature.
International journal of surgery case reportsA rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
Scientific reportsOsteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant.
Journal of clinical research in pediatric endocrinologyRestoring Cell-Cell Junctions in DSPP-Deficient Odontoblasts Through Nanofibrous Topography and Wnt5a-Cdc42 Activation: A Laboratory Investigation.
International endodontic journalInositol-requiring enzyme 1 alpha is essential for dentinogenesis.
Frontiers in physiologyExfoliation of primary dentition in children with Osteogenesis Imperfecta medicated with bisphosphonates.
European journal of paediatric dentistryA UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryBaseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta.
Calcified tissue internationalPhysiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta: how does it affect dentin structure and biomechanics?
Acta biomaterialia[Case report of dentinogenesis imperfecta and review of literature].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyFunctional and Aesthetic Treatment of Patients With Tooth Structure Anomalies: A Narrative Review.
CureusUnveiling Novel DSPP Variants and Dental Phenotypes in Dentinogenesis Imperfecta.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyGuided Endodontics in Managing Root Canal Treatment for Anomalous Teeth-A Narrative Review.
Australian endodontic journal : the journal of the Australian Society of Endodontology IncA Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.
International dental journalLumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review.
MedicineNew Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases.
International dental journalOsteogenesis imperfecta: pathogenesis, classification, and treatment.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyCOL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.
Archives of oral biologyEffects of dentinogenesis imperfecta, sex, and tooth type on the compositional and structural organization of the dentin-enamel junction in the osteogenesis imperfecta murine model.
Archives of oral biology[Genetic analysis of a family with Dentinogenesis imperfecta type Ⅰ caused by a novel mutation in the COL1A2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPersonalized Bonding Approach for Full-Mouth Adhesive Rehabilitation in Dentinogenesis Imperfecta.
Clinical case reportsDentinogenesis imperfecta type II dentin: nanostructural mechanics analysis.
BMC oral healthTowards a Modernized Framework of Histology Teaching to Integrate Genetics: Pedagogical Perspectives for Oral Histology.
GenesPerceived oral care needs and concerns of individuals with osteogenesis imperfecta.
British dental journalFunctions of secretory calcium-binding phosphoproteins in dental mineralization.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchThe Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.
GenesBlue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis.
Journal of investigative medicine high impact case reportsProsthetic Rehabilitation of Three Dentinogenesis Imperfecta Patients using Hobo Twin Stage Technique and Implant Supported Overdenture - A Case Report.
Indian journal of dental research : official publication of Indian Society for Dental ResearchA family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.
BMC oral healthDeciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.
Journal of human geneticsCOL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.
American journal of medical genetics. Part AA Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.
Molecular genetics & genomic medicineEnhancing Localized, Occlusal Space by Relative Axial Tooth Movement in Patient with Dentinogenesis Imperfecta-A Case Report.
Journal of pharmacy & bioallied sciencesDental Management of Genetic Dental Disorders: A Critical Review.
Journal of dental researchThe genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryChildhood early oral ageing syndrome: prevalence and association with possible aetiological factors and consequences for the vertical dimension of occlusion: protocol for a cross-sectional study.
BMJ openProgress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.
Frontiers in cell and developmental biologyInvestigation of oral health findings and genotype correlations in osteogenesis imperfecta.
OdontologyOsteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.
Intractable & rare diseases researchDentinogenesis imperfecta in a 6-year-old male neutered Labrador retriever: Case report with atypical clinical presentation and treatment review.
Frontiers in veterinary scienceEndodontic Management of Dentinogenesis Imperfecta Using Guided Endodontics: A Case Report.
Iranian endodontic journalGenotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.
JBMR plusOral Health-Related Quality of Life in Dutch Adults With Osteogenesis Imperfecta.
Oral diseasesZebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.
Calcified tissue internationalDental Abnormalities in Osteogenesis Imperfecta: A Systematic Review.
Calcified tissue internationalOrganotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis.
Tissue engineering. Part ARare diseases: a challenge in paediatric dentistry.
European journal of paediatric dentistryOrofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study.
Children (Basel, Switzerland)Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.
Calcified tissue internationalA standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.
Orphanet journal of rare diseasesPretreatments to bonding on enamel and dentin disorders: a systematic review.
Evidence-based dentistryMolecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.
Journal of clinical research in pediatric endocrinologyOptimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta.
Calcified tissue internationalExtra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.
Calcified tissue internationalIsolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Clinical oral investigationsRegenerative Endodontic Procedures in Immature Teeth Affected by Regional Odontodysplasia.
Journal of endodonticsA novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.
HeliyonOrthodontic treatment of a patient with dentinogenesis imperfecta using a clear aligner system.
Journal of the American Dental Association (1939)A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.
JBMR plusDentinogenesis imperfecta: case report with nanoceramic resin crowns restorative treatment.
The Journal of clinical pediatric dentistryThe Role of DSPP in Dentine Formation and Hereditary Dentine Defects.
The Chinese journal of dental researchZ-osteotomy for uniplanar femoral shaft deformity correction in an adolescent with osteogenesis imperfecta.
Medical journal, Armed Forces IndiaAn Aesthetic and Economic Approach of Smile Designing for a Patient With Dentinogenesis Imperfecta: A Rare Case Entity.
CureusThe impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents.
Clinical oral investigationsEstablishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryA novel approach to full-mouth rehabilitation of dentinogenesis imperfecta type II: Case series with review of literature.
MedicineRegenerative Endodontic Treatment in Dentinogenesis Imperfecta-Induced Apical Periodontitis.
Case reports in dentistryDiscrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report.
The American journal of case reportsDental Abnormalities in Two Dental-Skeletal-Retinal Anomaly-Positive Cane Corso Dogs: A Case Series.
Journal of veterinary dentistryComprehensive Preventive and Therapeutic Oral Health Care: A Case Report of Mucopolysaccharidosis Type IV A in a Pediatric Patient.
Puerto Rico health sciences journalA Review of Selected Dental Anomalies With Histologic Features in the Pediatric Patient.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyLong-term follow-up of severe autosomal recessive SP7-related bone disorder.
BoneDentinogenesis Imperfecta in a 1-Year-Old Female Labrador Retriever Dog: A Case Report and Literature Review.
Journal of veterinary dentistryCharacterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
European journal of medical geneticsLoss of Bmp2 impairs odontogenesis via dysregulating pAkt/pErk/GCN5/Dlx3/Sp7.
Research squareNovel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
European journal of medical geneticsCombination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
European journal of medical geneticsDysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchDental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies.
Journal of applied oral science : revista FOBDental tissue changes in juvenile and adult mice with osteogenesis imperfecta.
Anatomical record (Hoboken, N.J. : 2007)[Recognition on dentin dysplasia type Ⅱ].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyChapter 4: Development Defects of Enamel and Dentine and Coronal Caries.
Monographs in oral scienceMorphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta.
Dentistry journalIntracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review.
Endocrine journalHereditary dentin defects with systemic diseases.
Oral diseasesNovel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.
Archives of oral biologyDentin defects caused by a Dspp-1 frameshift mutation are associated with the activation of autophagy.
Scientific reportsIdentification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.
Clinical oral investigationsAAV6-Mediated Gene Therapy Prevents Developmental Dentin Defects in a Dentinogenesis Imperfecta Type Ⅲ Mouse Model.
Human gene therapy[Progress in the classification of hereditary dentin disorders and clinical management strategies].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyUnequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Journal of dental researchSystematic review of health related-quality of life in adults with osteogenesis imperfecta.
Orphanet journal of rare diseasesSpondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.
European journal of medical genetics[Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyA novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Oral diseasesDental Anomalies in a Sample of Lebanese Children: a Retrospective Study.
Materia socio-medicaEvaluating the Prevalence and Distribution of Dental Anomalies in the Permanent Dentition of Patients Seeking Dental Care.
CureusWithdrawal: A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Oral diseasesCOL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Frontiers in surgeryThe First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.
The Journal of clinical endocrinology and metabolismThe paediatric dentistry-restorative dentistry interface.
British dental journalA Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Journal of veterinary dentistry[Clinical and genetic analysis of a pedigree affected with hereditary dentinogenesis imperfecta type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe role of Dentin Sialophosphoprotein (DSPP) in craniofacial development.
Journal of oral biology and craniofacial researchMorphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy.
Healthcare (Basel, Switzerland)Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.
Military medicineCraniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.
BoneAnalysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.
Molecular genetics & genomic medicineTranslated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects.
Journal of personalized medicineInterdisciplinary Management of a Patient with Dentinogenesis Imperfecta Type II Using a Combination of CAD-CAM and Analog Techniques: A Clinical Report.
Journal of prosthodontics : official journal of the American College of ProsthodontistsThe Modified Shields Classification and 12 Families with Defined DSPP Mutations.
GenesGenotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsPattern and prevalence of dental anomalies among a paediatric population in Lagos, Nigeria.
The Nigerian postgraduate medical journalMicro-CT study on isolated teeth with hereditary dentin defects.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyMetaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature.
Bone reportsThe recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
American journal of medical genetics. Part APrevalence and Distribution of Selected Dental Anomalies in the Patients Reporting to Dental Institute, RIMS, Ranchi.
Journal of pharmacy & bioallied sciencesDifferential lncRNA/mRNA Expression Profiling and Functional Network Analyses in Bmp2 Deletion of Mouse Dental Papilla Cells.
Frontiers in geneticsPhenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation.
Annals of translational medicineClear Aligners in Patients with Amelogenesis and Dentinogenesis Imperfecta.
International journal of dentistryClinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Molecular syndromologyClinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood.
Acta medica academicaOral health-related quality of life in children with osteogenesis imperfecta.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryDentinogenesis imperfecta type 2: a case report.
General dentistryPamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.
Calcified tissue internationalOsteogenesis imperfecta type III: Oral, craniofacial characteristics and atypical radiographic findings oral.
Journal of clinical and experimental dentistryMouse Dspp frameshift model of human dentinogenesis imperfecta.
Scientific reportsEnamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.
Frontiers in physiologyEffects of DSPP Gene Mutations on Periodontal Tissues.
Global medical geneticsHigh bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Bone reportsNon-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2.
Journal of personalized medicineA Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
Journal of clinical research in pediatric endocrinologyCombined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Prenatal diagnosisDentinogenesis imperfecta type II: Diagnosis, functional and esthetic rehabilitation in mixed dentition.
Journal of oral and maxillofacial pathology : JOMFPDSPP dosage affects tooth development and dentin mineralization.
PloS oneNanoscopic wear behavior of dentinogenesis imperfecta type II tooth dentin.
Journal of the mechanical behavior of biomedical materialsDentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children.
Dentistry journalObserved Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta.
Revista medica de ChileNovel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.
Molecular genetics & genomic medicineDentine disorders and adhesive treatments: A systematic review.
Journal of dentistryLoss of TANGO1 Leads to Absence of Bone Mineralization.
JBMR plusManagement of molar-incisor hypomineralisation by general dental practitioners - part one: diagnosis.
British dental journalOsteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study.
BonePhenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations.
Oral surgery, oral medicine, oral pathology and oral radiologyHypoxia-Responsive Oxygen Nanobubbles for Tissues-Targeted Delivery in Developing Tooth Germs.
Frontiers in cell and developmental biologyMother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryCase Report: Rare Presentation of Dentin Abnormalities in Loeys-Dietz Syndrome Type I.
Frontiers in dental medicineA Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.
JBMR plusCervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.
Bone reportsHaploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice.
Frontiers in physiologyFragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report.
International journal of clinical pediatric dentistryHuman dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials.
Acta biomaterialiaReduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study.
Acta odontologica Scandinavica[Role of bone morphogenetic protein 1/tolloid proteinase family in the development of teeth and bone].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyClinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Journal of bone and mineral metabolismFull Mouth Rehabilitation of Two Siblings with Dentinogenesis Imperfecta Type II Using Different Treatment Modalities.
International journal of environmental research and public healthTooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Oral diseasesA Digital Esthetic Rehabilitation of a Patient with Dentinogenesis Imperfecta Type II: A Clinical Report.
Journal of prosthodontics : official journal of the American College of ProsthodontistsCase report: Rehabilitation of a child with dentinogenesis imperfecta with CAD/CAM approach: Three-year follow-up.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryPhysicochemical properties of dentinogenesis imperfecta with a known DSPP mutation.
Archives of oral biologyManagement of Dentinogenesis Imperfecta: A Report of Two Cases.
International journal of clinical pediatric dentistry[Gene mutations and disorders of dental hard tissues].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyMonolithic CAD/CAM Complete Overdentures for a Pedodontic Patient with Dentinogenesis Imperfecta and Limited Prosthetic Space: A Clinical Report.
The International journal of prosthodonticsFatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
The Journal of dermatologyHomozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchRare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.
GeneDental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Acta dermato-venereologicaBiallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
eLifeA family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
European journal of medical geneticsChapter 6: Vitamins and Oral Health.
Monographs in oral sciencePathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
American journal of medical genetics. Part AFatigue in adults with Osteogenesis Imperfecta.
BMC musculoskeletal disordersNoggin inhibition of mouse dentinogenesis.
Journal of oral biosciencesX-ray microanalysis of dentine in primary teeth diagnosed Dentinogenesis Imperfecta type II.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryPhenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta.
International journal of nanomedicineA histological continuum between dentinogenesis imperfecta and dentin dysplasia: A case report with literature review.
Indian journal of dental research : official publication of Indian Society for Dental ResearchGenotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Frontiers in pharmacologyCOL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
Frontiers in geneticsDental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.
Oral surgery, oral medicine, oral pathology and oral radiologyA novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype.
Connective tissue researchThe first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.
Molecular genetics & genomic medicineA novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.
Genes & diseasesMutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.
Journal of dental researchCyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center.
Genetics and molecular biologyDentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.
BDJ openConditional Knockout of Raptor/mTORC1 Results in Dentin Malformation.
Frontiers in physiologyA multidisciplinary approach to the functional and esthetic rehabilitation of dentinogenesis imperfecta type II: A clinical report.
The Journal of prosthetic dentistryDentinogenesis Imperfecta Type II in Children: A Scoping Review.
The Journal of clinical pediatric dentistryNOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsGenotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
European journal of human genetics : EJHGChallenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryEstablishment of an Immortalized Mouse Bmp2 Knockout Dental Papilla Mesenchymal Cell Line.
Methods in molecular biology (Clifton, N.J.)Associações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
- Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
- Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.Dental materials : official publication of the Academy of Dental Materials· 2026· PMID 41763991mais citado
- A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.
- A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
- Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource-Limited Setting: A Case Report.
- Spatial Transcriptomics of Early Tooth Morphogenesis in Formalin-fixed Paraffin-embedded Mouse Embryonic Tissue.
- Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:49042(Orphanet)
- MONDO:0018849(MONDO)
- GARD:6258(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q548984(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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