J Pediatr Genet 2016; 05(04): 198-208
DOI: 10.1055/s-0036-1592421
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis

Xiaoqian Ye
1  Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States
2  School and Hospital of Stomatology, Wuhan University, Wuhan, China
Ali B. Attaie
3  Departments of Pediatrics and Dental Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, United States
› Author Affiliations
Further Information

Publication History

15 September 2015

04 October 2015

Publication Date:
26 September 2016 (online)


Human dentition development is a long and complex process which involves a series of reciprocal and sequential interactions between the embryonic stomodeal epithelium and the underlying neural crest–derived mesenchyme. Despite environment disturbances, tooth development is predominantly genetically controlled. To date, more than 200 genes have been identified in tooth development. These genes implied in various signaling pathways such as the bone morphogenetic protein, fibroblast growth factor, sonic hedgehog homolog, ectodysplasin A, wingless-type MMTV integration site family (Wnt), and transform growth factor pathways. Mutations in any of these strictly balanced signaling cascades may cause arrested odontogenesis and/or other dental defects. This article aims to review current knowledge about the genetic mechanisms responsible for selective nonsyndromic tooth agenesis in humans and to present a detailed summary of syndromes with hypodontia as regular features and their causative genes.