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 Citations (Scopus)

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)
JournalWorld journal of orthodontics
Volume9
Issue number4
StatePublished - Dec 2008
Externally publishedYes

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Exons
Tooth
Mutation
Cheek
DNA Sequence Analysis
Point Mutation
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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).

Tooth agenesis in a family and homozygous PAX9 mutation in exon 3 : a case report. / Kula, Katherine; Trimmell, Justin; Lu, Yongbo; Briscoe, Patrick; Feng, Jian Q.

In: World journal of orthodontics, Vol. 9, No. 4, 12.2008.

Research output: Contribution to journalArticle

Kula, K, Trimmell, J, Lu, Y, Briscoe, P & Feng, JQ 2008, 'Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report.', World journal of orthodontics, vol. 9, no. 4.
Kula, Katherine ; Trimmell, Justin ; Lu, Yongbo ; Briscoe, Patrick ; Feng, Jian Q. / Tooth agenesis in a family and homozygous PAX9 mutation in exon 3 : a case report. In: World journal of orthodontics. 2008 ; Vol. 9, No. 4.
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