You are on page 1of 2

Eur J Med Genet. 2008 Jul-Aug;51(4):273-91. Epub 2008 Mar 26.

The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
Source
Paediatric Dentistry Department, Paris 7 University, AP-HP, Htel-Dieu - Garancire, Paris, France. isabelle.bailleul@univ-diderot-diderot.fr

Abstract
The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and development, belong to signalling pathways and have morphogenesis regulatory functions in morphogenesis of other organs where they are associated with the signalling pathways. Their mutations often show pleotropic effects beyond dental morphogenesis resulting in syndromic developmental disorders. Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). By contrast, genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) and dentin (DSPP) structures are highly specific for tooth. Mutations in these genes have been identified as causes of amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasias and anomalies of teeth number (hypo-, oligo and anodontia), which only partially overlap with the classical phenotypic classifications of dental disorders. This review of genetic basis of inherited anomalies describes, in this first paper, the molecular bases and clinical features of inherited non-syndromic teeth disorders. And in a second part, the review focus on genetic syndromes with dental involvement.

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.

Source

Paediatric Dentistry Department, Paris 7 University; AP-HP, Htel-Dieu, Garancire, Paris, France. isabelle.bailleul@univ-paris-diderot.fr

Abstract
Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies. Focusing on dental aspects, we will review a selection of MCA syndromes associated with teeth number and/or shape anomalies. A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis.