Novel PAX9 mutation in a family with oligodontia

Abstract

Introduction: Oligodontia is defined as the developmental absence of more than six permanent teeth, not including third molars. Mutations in Muscle segment homeobox 1 (MSX1) and Paired box 9 (PAX9) are associated mainly with the absence of premolar and molar teeth respectively. The reported prevalence of oligodontia is 0.08-0.16 %. Methods: A survey of 1000 Dental Panoramic Tomograms from the archives of the Dental Department, Mater Dei Hospital, Malta revealed a prevalence of oligodontia of o.8%. Two unrelated nuclear families with oligodontia were tested at a genetic level. Saliva samples were collected and DNA extracted. Primers were designed to span the exons and intron-exon junctions of MSX1 and FAX9. The primers were optimised using gradient PCR, and High Resolution Melting Analysis identified variations for DNA sequencing.