Genetic and structural alterations of dentin: dentinogenesis imperfecta and dentin dysplasia

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Inherited dentine diseases, such as dentinogenesis imperfecta (DGI) and dentine dysplasia (DD) and their several subtypes, which are classified by Shield , based on clinical and radiological similarities, are genetic disorders that can affect the primary and secondary dentitions. Patients with DGI type I may have mutations in the COL1A2 or COL1A1 genes, whereas those with DGI types II and III and DD type II may have mutations in the DSPP gene. Additionally, mutations in the SMOC2, VPS4B, and SSUH2 genes have been associated with DD type I. Inherited dentin disorders often affect primary teeth more severely than permanent teeth, and the symptoms are usually noticeable at an early age. DGI causes yellowish-brown teeth with constricted cervical areas and wide crowns, while DD presents normal enamel formation and color, with short and blunted roots, and pulp cavities that may have a thistle-tube deformity and pulp stones commonly. These conditions can cause significant attrition, loss of dentition, and aesthetic effects on patients, leading to low self-esteem, dental anxiety, and poor quality of life.

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hereditary dentin disorders, dentinogenesis imperfecta, dentin dysplasia
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