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Last update 08 May 2025

Dentinogenesis Imperfecta

Last update 08 May 2025

Basic Info

Synonyms

CAPDEPONT TEETH, Capdepont Teeth, Capdepont teeth

+ [45]

Introduction

An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.

Clinical Trials associated with Dentinogenesis Imperfecta

NCT04927962

/ Unknown statusNot ApplicableIIT

Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta in Young People

The purpose of this research is to study the impact of dentinogenesis (DI) and amelogenesis (AI) imperfecta on oral quality of life, exposure to bullying and dental anxiety in a population of adolescents. WThe present study will use validated scales to evaluate the impact of bullying on the oral quality of live of youth aged 10 to 18 years, with non-syndromic DI or AI treated in seven national competence or reference centers in rare oral diseases.

Start Date22 Sep 2021

Sponsor / Collaborator

Toulouse University Hospital

NCT03810859

/ Unknown statusNot ApplicableIIT

Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants

ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.

Start Date09 Oct 2019

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

100 Clinical Results associated with Dentinogenesis Imperfecta

100 Translational Medicine associated with Dentinogenesis Imperfecta

0 Patents (Medical) associated with Dentinogenesis Imperfecta

817

Literatures (Medical) associated with Dentinogenesis Imperfecta

01 May 2025·Journal of Human Genetics

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia

Article

Author: Elhossini, Rasha M ; Abdel-Ghafar, Sherif F ; Abdel-Hamid, Mohamed S ; Aglan, Mona S ; Mehrez, Mennat ; Hassib, Nehal F

AbstractOdontochondrodysplasia (ODCD) is a rare skeletal dysplasia characterized by short stature, skeletal deformities, and dentinogenesis imperfecta (DI). Although the majority of cases were associated with biallelic variants in TRIP11, one study described a homozygous truncating variant in MIA3, encoding TANGO1, in four sibs with ODCD in association with insulin-dependent diabetes, hearing loss, obesity, and intellectual disability. Subsequently, a homozygous truncating variant in the luminal domain of TANGO1 was identified in a fetus with a lethal skeletal dysplasia and fetal hydrops. Herein, we describe two unrelated patients with a distinct phenotype including severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, and DI. Other variable features were scoliosis, squint, and cardiac problems. Exome sequencing revealed two homozygous MIA3 variants in the luminal domain of TANGO1, c.354+2T>G and p.Cys38Phe. The c.354+2T>G variant was confirmed by investigating the patient’s mRNA to result in exon 3 skipping and an inframe deletion of 29 amino acids. Our patients lacked the extra-skeletal manifestations noted in the four sibs with MIA3 variant. However, they had more severe skeletal deformities closely resembling those observed in patients with TRIP11 variants. Our study suggests the presence of a phenotypic spectrum associated with MIA3 variants including ODCD with milder skeletal deformities, a classic ODCD with severe skeletal deformities, and a lethal skeletal dysplasia at the severe end of the spectrum. Although the striking phenotypic variability appears to be related to the type and or the location of the MIA3 variants, the influence of other factors cannot be ruled out.

01 Apr 2025·Journal of Investigative Medicine High Impact Case Reports

Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis

Article

Author: Khan, Malik WZ ; Hayat, Qazi Jawad ; Hayat, Saad ; Mayan, Ahmad Roshan

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. Its association with dentinogenesis imperfecta (DI) is well documented, but the concurrent presentation with nephrocalcinosis is uncommon and poorly understood. We documented the case of an 18-year-old male presenting with a triad of OI, DI, and nephrocalcinosis. The patient exhibited characteristic features including blue sclera, multiple fractures, dental abnormalities, bowing of long bones, a short stature, and biochemical evidence of altered calcium metabolism. Genetic testing revealed mutations in COL1A1, confirming the diagnosis of OI Type I. This case highlights the importance of comprehensive evaluation in OI patients, emphasizing the need for dental and renal assessment. The presence of nephrocalcinosis in OI demands further investigation into the mechanisms of calcium dysregulation in disorders of these kinds.

01 Apr 2025·Journal of Dental Research

Dental Management of Genetic Dental Disorders: A Critical Review

Review

Author: Dujic, H. ; Schmidt, P. ; Kühnisch, J. ; Bücher, K. ; Hertel, S. ; Güth, J.F. ; Jablonski-Momeni, A. ; Edelhoff, D. ; Zschocke, J. ; Kapferer-Seebacher, I. ; Schüler, I.M. ; Timpel, J. ; Heinrich-Weltzien, R. ; Schilke, R. ; Liebermann, A.

Genetic dental disorders (GDDs) can occur either isolated or as part of syndromes. Clinically, deviations in tooth shape, size, or structure, as well as the absence of multiple teeth, lead to severe dysfunction and a reduced quality of life, requiring lifelong preventive, conservative, and prosthodontic dental care. The dental management of prevalent dental diseases, such as caries or periodontitis, has been based on decades of research, whereas scientific data on the dental management of GDDs are scarce. This lack of data is challenging for dental practitioners, who must primarily rely on empirical knowledge only. Therefore, a systematic literature search and review were conducted on the dental management of common GDDs, such as ectodermal dysplasia, amelogenesis imperfecta, dentinogenesis imperfecta, periodontitis as a manifestation of rare systemic diseases, and X-linked hypophosphatemia and hypophosphatasia. The review revealed that 468 of the 9,115 retrieved publications met the inclusion criteria, with most being case reports or case series, highlighting a lack of robust clinical trials. This critical review provides a brief summary of the genetic background, key clinical signs, and treatment options for these conditions. The dominance of case reports emphasizes the need for improved reporting standards and long-term follow-up to support comprehensive data synthesis and meta-analyses. In addition, the uneven global distribution of publications suggests disparities in access to advanced dental care for GDDs. Efforts to standardize reporting and improve treatment documentation globally are crucial to addressing these challenges. In this way, information on GDD management can be improved, and statistical analyses of the data can be performed.

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Dentinogenesis Imperfecta

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