Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report.

Katherine Kula, Justin Trimmell, Yongbo Lu, Patrick Briscoe, Jian Q. Feng

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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. 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. All family members had a homozygous point mutation at the 718 position (G to C) in exon 3 (a nonpaired domain) of PAX9. 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. COPYRIGHT

Original languageEnglish (US)
Pages (from-to)e55-61
JournalWorld journal of orthodontics
Volume9
Issue number4
StatePublished - Jan 1 2008

ASJC Scopus subject areas

  • Medicine(all)

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    Kula, K., Trimmell, J., Lu, Y., Briscoe, P., & Feng, J. Q. (2008). Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. World journal of orthodontics, 9(4), e55-61.