PAX9 gene mutations and tooth agenesis: A review

  title={PAX9 gene mutations and tooth agenesis: A review},
  author={O. Bonczek and V. Balcar and O. {\vS}er{\'y}},
  journal={Clinical Genetics},
  pages={467 - 476}
  • O. Bonczek, V. Balcar, O. Šerý
  • Published 2017
  • Biology, Medicine
  • Clinical Genetics
  • Paired box 9 (PAX9) is one of the best‐known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the… CONTINUE READING
    26 Citations

    Paper Mentions

    Genetic variants in tooth agenesis–related genes might be also involved in tooth size variations
    • 1
    The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis
    • 14
    • PDF
    The molecular genetics of selective tooth agenesis.
    Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
    • 10
    • PDF
    Diagnosis of Tooth Agenesis in Childhood and Risk for Neoplasms in Adulthood
    • 9
    • PDF


    Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report.
    • 7
    Novel PAX9 mutation associated with syndromic tooth agenesis.
    • 17
    Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis
    • 23
    • PDF
    Novel missense mutation in PAX9 gene associated with familial tooth agenesis.
    • B. R. Boeira, S. Echeverrigaray
    • Biology, Medicine
    • Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
    • 2013
    • 22
    Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.
    • 6
    • PDF
    Identification of a nonsense mutation in the PAX9 gene in molar oligodontia
    • 157
    • PDF
    A novel mutation in human PAX9 causes molar oligodontia.
    • 111