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Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families

Y D Mu1, Z Xu, C I Contreras

  • 1Department of Developmental Dentistry, Dental School, University of Texas Health Science Center, San Antonio, Texas, USA.

Genetics and Molecular Research : GMR
|November 14, 2013
PubMed

Insights

Genetic variations in AXIN2, MSX1, and PAX9 are linked to non-syndromic oligodontia. A novel MSX1 variation was identified in Mexican families, suggesting gene dosage impacts tooth development.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oral Health

Background:

  • Non-syndromic oligodontia is a congenital condition characterized by the absence of multiple teeth.
  • Genes such as AXIN2, MSX1, and PAX9 play crucial roles in tooth root formation and development.
  • Mutations in these genes are associated with oligodontia, highlighting their importance in dental development.

Purpose of the Study:

  • To investigate the phenotype and genetic variations of AXIN2, MSX1, and PAX9 in two Mexican families with non-syndromic oligodontia.
  • To identify potential genetic factors contributing to tooth agenesis in the studied population.
  • To analyze the impact of identified genetic variations on protein and mRNA structures.

Main Methods:

  • Clinical examinations including intra-oral assessment and panoramic radiography.
  • Genetic analysis involving sequencing of exons and exon-intronic boundaries of AXIN2, MSX1, and PAX9 genes.
  • Bioinformatic prediction of protein and mRNA structures for identified variants.

Main Results:

  • Clinical findings confirmed isolated non-syndromic oligodontia with an average of 12 missing teeth in the affected individuals.
  • Sequence analysis revealed 11 single-nucleotide polymorphisms (SNPs) across the three genes, with seven in AXIN2, two in MSX1, and three in PAX9.
  • A novel MSX1 SNP (c.476T>G, Leu159Arg) was identified in all patients, and MSX1 Leu159Arg and PAX9 Ala240Pro variants altered protein and mRNA structures.

Conclusions:

  • The study identified genetic variations in AXIN2, MSX1, and PAX9 associated with non-syndromic oligodontia in Mexican families.
  • A novel MSX1 variant (Leu159Arg) may contribute to oligodontia pathogenesis.
  • Combined reduction in MSX1 and PAX9 gene dosage is suggested to increase the risk for oligodontia, supported by known interactions required for tooth development.

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