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Tooth agenesis, selective, 3
Research Genetic test
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offered by
Dental Research Laboratory
GTR Test Accession: Help GTR000324330.12
INHERITED DISEASEORALMUSCULOSKELETAL ... View more
Last updated in GTR: 2024-05-13
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Last annual review date for the lab: 2024-05-13 LinkOut
At a Glance
Conditions (1): Help
Tooth agenesis, selective, 3
Genes (1): Help
PAX9 (14q13.3)
Study description: Help
Our laboratory conducts analyses to characterize the underlying genetic cause(s) …
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Individuals with missing teeth and a positive family history of …
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Proteomics and Genetics of Enamel and Dentin
Study short name: Help
Dental Genetics
Protocol number: Help
H03-00001835-M1
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Our laboratory conducts analyses to characterize the underlying genetic cause(s) of non-syndromic missing teeth, as well as non-syndromic enamel and/or dentin defects. To carry out a meaningful analysis, family (self-referred or referred by health care providers) should have clearly identified affected individual(s) from more than one generation. Upon evaluation of … View more
View citations (3)
  • Developmental biology and genetics of dental malformations. Hu JC, et al. Orthod Craniofac Res. 2007;10(2):45-52. doi:10.1111/j.1601-6343.2007.00384.x. PMID: 17552940.
  • Liang J, Song G, Li Q, Bian Z. Novel missense mutations in PAX9 causing oligodontia. Arch Oral Biol. 2012;57(6):784-9. doi:10.1016/j.archoralbio.2011.12.005. Epub 2012 Jan 23. PMID: 22277187.
  • Boeira BR, Echeverrigaray S. Novel missense mutation in PAX9 gene associated with familial tooth agenesis. J Oral Pathol Med. 2013;42(1):99-105. doi:10.1111/j.1600-0714.2012.01193.x. Epub 2012 Jul 02. PMID: 22747565.
Study aims and hypotheses: Help
This study aims to determine the genetic etiologies of inherited dental defects. The hypothesis is that target gene analysis and whole exome analysis can identify causal mutations in kindreds with dental defects in proven candidate genes, and also identify novel genes and mutations.
Study type: Help
Not applicable
Offered by: Help
Dental Research Laboratory
Person responsible for the study: Help
James Simmer, PhD, DDS/DMD, Lab Director
Study contact: Help
Jan Hu, PhD, DDS/DMD, Lab Associate Director
Co-investigator: Help
Jan Hu, PhD, DDS/DMD, Lab Associate Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Participation
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Individuals with missing teeth and a positive family history of missing teeth
Recruiting sites: Help
Dental Research Laboratory, University of Michigan School of Dentistry
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Technical Information
Test Procedure: Help
Method #1, target gene analysis, is the primary test procedure. When the primary test did not yield a definitive result and clinical diagnosis is reconfirmed, then Method #2, whole exome sequencing, with bioinformatic analysis may be used.
View citations (1)
  • Wang SK, Chan HC, Makovey I, Simmer JP, Hu JC. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PLoS One. 2012;7(12):e51533. doi:10.1371/journal.pone.0051533. Epub 2012 Dec 05. PMID: 23227268.
Test Confirmation: Help
Testing family members or using new sample
Test Comments: Help
When whole exome sequencing is used, we will evaluate variants of known candidate genes and genes associated with tooth development.
Additional Information

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