Hypodontia: genetics and future Hypodontia: genetics and future perspectives


  • Trevor J Pemberton University of Southern California
  • Parimal Das Department of Surgical Oncology, M.D. Anderson Cancer Center.
  • Pragna I Patel Department of Surgical Oncology, M.D. Anderson Cancer Center




Hypodontia. Tooth agenesis. PAX9. MSX1. Prevalence. Mutations


Tooth development is a complex process of reciprocal interactions that we have only recently begun to understand. With the large number of genes involved in the odontogenic process, the opportunity for mutations to disrupt this process is high. Tooth agenesis (hypodontia) is the most common craniofacial malformation with patients missing anywhere from one tooth to their entire dentition. Hypodontia can occur in association with other developmental anomalies (syndromic) or as an isolated condition (non-syndromic). Recent advances in genetic techniques have allowed us to begin understanding the genetic processes that underlie the odontogenic process and to identify the mechanisms responsible for tooth agenesis. Thus far two genes have been identified by mutational analysis as the major causes of non-syndromic hypodontia; PAX9 and MSX1. Haploinsufficiency of either has been observed to cause the more severe forms of hypodontia whilst point mutations cause hypodontia to varying degrees of severity. With the prevalence of hypodontia having been observed to have increased during the 20th century, the future identification and analysis of its genetic basis is essential to allow us to better treat the condition. The clinician can facilitate this process by collaborating with the human geneticist and referring patients/families with familial hypodontia for investigative research.


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Author Biographies

Trevor J Pemberton, University of Southern California

Trevor received his undergraduate training in molecular genetics at the University of Sussex. He also earned his D.Phil. in biochemistry from the University of Sussex in 2005, where, under the mentorship of Dr. John Kay, he identified and characterized the repertoire of cyclophilin genes, the targets of the immunosuppressant drugs Cyclosporin A and Sanglifehrin A, in the then partially annotated genome of the fission yeast Schizosaccharomyces pombe. In his postdoctoral training under the mentorship of Drs. Pragna Patel (University of Southern California), Frank Haluska (Tufts-New England Medical Center), and Noah Rosenberg (Stanford University), Trevor focused on various aspects of human genetics that included understanding the genetic etiology of Mendelian and complex traits, how population history and cultural factors influence patterns of human genetic variation — particularly in the population of India — and the ways in which these patterns can be harnessed to advance the discovery of genes that underlie disease. In February 2013, Trevor joined the faculty of theDepartment of Biochemistry and Medical Genetics at the University of Manitoba

Pragna I Patel, Department of Surgical Oncology, M.D. Anderson Cancer Center

Dr. Patel received her Ph.D. in Biochemistry in 1982 from West Virginia University and did her Postdoctoral Training in human molecular genetics at Baylor College of Medicine. Prior to joining the Institute for Genetic Medicine in 2004, Dr. Patel was a Professor of Neurology, Molecular & Human Genetics, and Neuroscience at Baylor College of Medicine.


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How to Cite

Pemberton TJ, Das P, Patel PI. Hypodontia: genetics and future Hypodontia: genetics and future perspectives. Braz. J. Oral Sci. [Internet]. 2015 Nov. 18 [cited 2022 Nov. 28];4(13):695-706. Available from: https://periodicos.sbu.unicamp.br/ojs/index.php/bjos/article/view/8641817



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