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孤立性牙本质发育不全和牙本质发育异常:分类修订

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

作者信息

de La Dure-Molla Muriel, Philippe Fournier Benjamin, Berdal Ariane

机构信息

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.

出版信息

Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13.


DOI:10.1038/ejhg.2014.159
PMID:25118030
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4666581/
Abstract

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.

摘要

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。

相似文献

[1]
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

Eur J Hum Genet. 2015-4

[2]
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci.

Eur J Oral Sci. 1998-1

[3]
Hereditary dentin defects.

J Dent Res. 2007-5

[4]
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.

J Dent Res. 2006-4

[5]
Hereditary dentine diseases resulting from mutations in DSPP gene.

J Dent. 2012-4-19

[6]
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.

Oral Dis. 2017-4

[7]
Disorders of human dentin.

Cells Tissues Organs. 2007

[8]
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.

Eur J Oral Sci. 2011-12

[9]
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.

J Bone Miner Res. 2012-8

[10]
Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.

J Dent Res. 2019-6-7

引用本文的文献

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Functional and Aesthetic Treatment of Patients With Tooth Structure Anomalies: A Narrative Review.

Cureus. 2025-7-28

[2]
New Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases.

Int Dent J. 2025-7-24

[3]
Label-free visualisation of histological features in human teeth using autofluorescence imaging.

Biomed Opt Express. 2025-6-16

[4]
Personalized Bonding Approach for Full-Mouth Adhesive Rehabilitation in Dentinogenesis Imperfecta.

Clin Case Rep. 2025-6-3

[5]
Dentinogenesis imperfecta type II dentin: nanostructural mechanics analysis.

BMC Oral Health. 2025-6-4

[6]
A 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 Health. 2025-4-7

[7]
A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.

Mol Genet Genomic Med. 2025-3

[8]
Dental Management of Genetic Dental Disorders: A Critical Review.

J Dent Res. 2025-4

[9]
The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.

Eur Arch Paediatr Dent. 2025-2

[10]
Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

Front Cell Dev Biol. 2024-12-9

本文引用的文献

[1]
Dentin sialophosphoprotein (DSPP) plays an essential role in the postnatal development and maintenance of mouse mandibular condylar cartilage.

J Histochem Cytochem. 2013-7-30

[2]
Down-regulation of Wnt10a affects odontogenesis and proliferation in mesenchymal cells.

Biochem Biophys Res Commun. 2013-4-18

[3]
A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.

Biomed Res Int. 2012-12-27

[4]
Hereditary dentine diseases resulting from mutations in DSPP gene.

J Dent. 2012-4-19

[5]
A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.

PLoS One. 2011-11-18

[6]
Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.

Oral Dis. 2010-10-28

[7]
Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location.

J Bone Miner Res. 2011-4

[8]
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.

Clin Genet. 2011-4

[9]
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.

BMC Med Genet. 2010-2-10

[10]
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.

Eur J Oral Sci. 2009-12

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