Diseases of the tooth: The genetic and molecular basis of inherited anomalies affecting the dentition

Martyn T. Cobourne*, Paul T. Sharpe

*Corresponding author for this work

Research output: Contribution to journalLiterature reviewpeer-review

59 Citations (Scopus)


In humans, inherited variation in the number, size, and shape of teeth within the dentitions are relatively common, while rarer defects of hard tissue formation, including amelogenesis and dentinogenesis imperfecta, and problems associated with tooth eruption are also seen. In many cases, these anomalies occur in isolation, but they can also present as a feature of numerous well-characterized developmental syndromes. Complex reiterative signaling between the epithelium and mesenchyme is a feature of normal tooth development in the embryo, occurring from early patterning through morphogenesis, hard tissue formation and during root development. Significant events also occur during postnatal development of the dentition, including hard tissue maturation and tooth eruption. In the last decade, advances in human and mouse genetics have meant that in many cases candidate genes have been identified for these anomalies. These genes have provided a useful platform for developmental biologists, allowing them to begin elucidating how these signals interact to generate a functional dentition and understand the mechanisms underlying many of the anomalies that are seen in human populations. In this article, we review current concepts relating to the developmental biology of tooth number, size, and shape, formation of the dental hard tissues and eruption of the tooth into the oral cavity. We will focus on the molecular mechanisms underlying these processes in both health and disease. 

Original languageEnglish
Pages (from-to)183-212
Number of pages30
JournalWiley Interdisciplinary Reviews: Developmental Biology
Issue number2
Publication statusPublished - 1 Mar 2013


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