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The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
Eur Arch Paediatr Dent
January 2025
Dental School, The University of Western Australia, 17 Monash Avenue, Nedlands, WA, 6009, Australia.
Purpose: This systematic review aims to consolidate existing genetic and clinical data on non-syndromic dentinogenesis imperfecta (DI) to enhance understanding of its etiology.
Methods: Electronic databases were searched for genetic familial linkage studies published in English without time restrictions. Genetic familial linkage studies that reported cases of Shield's classifications: DI-II, DI-III or DD-II were included.
Segmental Odontomaxillary Dysplasia: Unusual Tumoral Lesion.
Head Neck Pathol
January 2025
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Introduction: Segmental Odontomaxillary Dysplasia (SOD) is a non-hereditary, unilateral developmental anomaly recently included in the WHO's classification of head and neck tumors.
Case Presentation: Here, we report the case of an 8-year-old boy presenting with unilateral maxillary enlargement and pain without facial asymmetry. Computed tomography revealed a hypodense area in the maxillary bone with altered bone structure and osseous expansion.
Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.
Front Cell Dev Biol
December 2024
Hospital of Stomatology, Jilin University, Changchun, China.
Hereditary dentine disorders are autosomal dominant diseases that affect the development and structure of dentine, leading to various dental abnormalities and influencing the individual's oral health. It is generally classified as dentinogenesis imperfecta (DGI) and dentine dysplasia (DD). Specifically, DGI is characterized by the abnormal formation of dentine, resulting in teeth that are discolored, translucent, and prone to fracture or wear down easily.
View Article and Find Full Text PDFClinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Sci Rep
April 2024
Department of Traditional Chinese Medicine, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, China.
Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caused by POLR3A mutation. The proband (IV6) in this family mainly showed progressive cognitive decline, dentin dysplasia, and hypogonadotropic hypogonadism.
View Article and Find Full Text PDFThe dentine sialophosphoprotein (DSPP) gene is the only identified causative gene for dentinogenesis imperfecta type 2 (DGI-II), dentinogenesis imperfecta type 3 (DGI-III) and dentine dysplasia type 2 (DD-II). These three disorders may have similar molecular mechanisms involved in bridging the DSPP mutations and the resulting abnormal dentine mineralisation. The DSPP encoding proteins DSP (dentine sialoprotein) and DPP (dentine phosphoprotein) are positive regulators of dentine formation and perform a function during dentinogenesis.
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