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


CONCLUSIONS
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.
Kula
Katherine
K
Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN 46202, USA. kkula@iupui.edu
Trimmell
Justin
J
Lu
Yongbo
Y
Briscoe
Patrick
P
Feng
Jian Q
JQ
D000293:Adolescent; D000848:Anodontia / Q000235:genetics*; D001641:Bicuspid / Q000002:abnormalities; D002648:Child; D003596:Cytosine; D005091:Exons / Q000235:genetics*; D005260:Female; D006147:Guanine; D006720:Homozygote; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D008963:Molar / Q000002:abnormalities; D008964:Molar, Third / Q000002:abnormalities; D020125:Mutation, Missense / Q000235:genetics; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*
D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D006147:Guanine; D003596:Cytosine