Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. Academic Article uri icon

abstract

  • AIM: To determine if the variable expression of tooth agenesis in a family whose members all presented with multiple and variable tooth agenesis is related to a mutation of the PAX9 gene. METHODS: The family was examined and its histories recorded. A buccal cheek swab was used to isolate DNA and sequencing of the PAX9 gene was performed. RESULTS: All family members had a homozygous point mutation at the 718 position (G to C) in exon 3 (a nonpaired domain) of PAX9. CONCLUSION: The variable expression of tooth agenesis in this family suggests that clinicians should carefully examine all members of a family in which tooth agenesis is identified.

author list (cited authors)

  • Kula, K., Trimmell, J., Lu, Y., Briscoe, P., & Feng, J. Q.

citation count

  • 5

publication date

  • January 2008