de La Dure-Molla Muriel, Philippe Fournier Benjamin, Berdal Ariane
1] Centre de Recherche des Cordeliers, INSERM UMRS 872, Laboratory of Molecular Oral Pathophysiology, Paris, France [2] Paris-Descartes University, Paris, France [3] The Pierre-and-Marie-Curie University, Paris, France [4] Paris-Diderot, School of Dentistry, Paris, France [5] Reference Center for Dental Rare Disease, MAFACE Rothschild Hospital, AP-HP, Paris, France.
Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13.
Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.
牙本质发育不全是一种常染色体显性疾病,其特征为牙本质严重矿化不足以及牙本质结构改变。牙本质细胞外基质由90%的I型胶原和10%的非胶原蛋白组成,其中牙本质涎蛋白(DSP)、牙本质糖蛋白(DGP)和牙本质磷蛋白(DPP)在牙本质形成过程中至关重要。这些蛋白质由单个基因——牙本质涎磷蛋白(DSPP)编码,并经历多种翻译后修饰,如糖基化和磷酸化,以促进和控制矿化。该DSPP基因的人类突变导致了1973年由希尔兹分类的三种孤立性牙本质疾病:II型和III型牙本质发育不全以及II型牙本质发育异常。希尔兹分类基于在患者中观察到的临床表型。遗传学结果现在表明,这三种疾病是同一病理的严重程度变异。因此,本综述旨在修订并提出一种新的孤立性牙本质发育不全形式的分类,以简化从业者的诊断。
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