A novel PAX9 mutation causing oligodontia

Arch Oral Biol. 2017 Dec:84:100-105. doi: 10.1016/j.archoralbio.2017.09.018. Epub 2017 Sep 25.

Abstract

Introduction: An extended family presenting with several members affected by developmentally missing teeth was investigated by analysis of the MSX1 and PAX9 genes.

Materials and methods: Saliva samples were collected and DNA extracted. Primers were designed to span the exons and intron-exon junctions of the MSX1 and PAX9 genes. These primers were optimised using gradient Polymerase Chain Reaction. The amplified fragments were sent for Sanger sequencing RESULTS: a novel heterozygote missense mutation in exon 3 of PAX9 (c.296G > C, p.A99P), was found in two severely affected members of the family as well as a potentially pathogenic heterozygote variant (c.119C > G, p.A40G) in exon 1 of the MSX1 gene.

Conclusion: The PAX9 A99P mutation is in the DNA binding domain and is predicted to be pathogenic.

Keywords: Family; Hypodontia; MSX1; Mutation; Oligodontia; PAX9.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / diagnostic imaging
  • Anodontia / genetics*
  • Child
  • Electrophoresis, Agar Gel
  • Exons
  • Female
  • Humans
  • Introns
  • MSX1 Transcription Factor / genetics
  • Male
  • Malta
  • Mutation, Missense / genetics*
  • PAX9 Transcription Factor / genetics*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Radiography, Panoramic

Substances

  • MSX1 Transcription Factor
  • PAX9 Transcription Factor