The genetic basis of hypodontia in dental development

• Published in: British dental journal 2023-10, Vol.235 (7), p.525-528
• Main Authors: Duke, Alice, Paterson, Michael, P. Ashley, Martin, MacNab, Lorna
• Format: Article
• Language: English
• Subjects: Dentistry; Etiology; Genes; Mutation; Teeth
• ISSN: 0007-0610; 1476-5373
• DOI: 10.1038/s41415-023-6384-6

Dental agenesis is one of the most common developmental anomalies in humans, characterised by the developmental absence of one or more teeth. It can present as an isolated condition (non-syndromic hypodontia) or associated with a syndrome (syndromic hypodontia). This paper aims to review the genetic basis of hypodontia with reference to aetiology, classification and the subsequent clinical features. Significant progress has been made to identify the developmental basis of tooth formation, though there is still a lack of knowledge within the literature of the aetiological basis of inherited tooth loss. Gene anomalies or mutations in WNT10A, MSX1, PAX9, AXIN2 and EDA appear to be most critical during tooth development, leading to various forms of tooth agenesis. Key points Hypodontia is genetically and phenotypically a heterogeneous condition. Gene anomalies or mutations in WNT10A, MSX1, PAX9 and AXIN2 appear to be most critical during tooth development. Further research into the genetic and pathogenetic mechanisms involved in both syndromic and non-syndromic hypodontia is required to fully understand the pathogenesis of tooth agenesis.