Dentin dysplasia type I-A dental disease with genetic heterogeneity.
Oral Dis
; 25(2): 439-446, 2019 Mar.
Article
em En
| MEDLINE
| ID: mdl-29575674
ABSTRACT
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação ao Cálcio
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Fosfoproteínas Fosfatases
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Proteínas de Caenorhabditis elegans
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Displasia da Dentina
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Dentinogênese Imperfeita
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Complexos Endossomais de Distribuição Requeridos para Transporte
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ATPases Associadas a Diversas Atividades Celulares
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Oral Dis
Ano de publicação:
2019
Tipo de documento:
Article