A novel initiation codon mutation of PAX9 in a family with oligodontia

Arch Oral Biol. 2016 Jan:61:144-8. doi: 10.1016/j.archoralbio.2015.10.022. Epub 2015 Oct 30.

Abstract

Objective: Recent studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, AXIN2, WNT10A and EDA. In this study, mutation of PAX9gene was investigated in a four-generation Chinese family with oligodontia.

Design: Genomic DNA was isolated from the blood samples of all the available family members. Candidate genes MSX1 and PAX9 were amplified using polymerase chain reaction and then directly sequenced.

Results: A novel initiation codon mutation was identified; it consisted of a heterozygous c.2T>G mutation in the PAX9 gene which changed the ATG initiation codon to AGG. Restriction-enzyme analysis was performed to verify this mutation, which was segregated amongst the members with the oligodontia phenotype.

Conclusions: Our results demonstrate a new initiation codon mutation in the PAX9 gene. This mutation probably caused the oligodontia in the investigated Chinese family through haplo-insufficiency.

Keywords: Initiation codon; Oligodontia; PAX9.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anodontia / diagnostic imaging
  • Anodontia / genetics*
  • Child
  • China
  • Codon, Initiator
  • DNA Mutational Analysis*
  • Female
  • Humans
  • MSX1 Transcription Factor / genetics*
  • Male
  • PAX9 Transcription Factor / genetics*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Radiography

Substances

  • Codon, Initiator
  • MSX1 Transcription Factor
  • MSX1 protein, human
  • PAX9 Transcription Factor
  • PAX9 protein, human