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Dens Evaginatus
Research Genetic test
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offered by
Dental Research Laboratory
GTR Test Accession: Help GTR000509951.12
INHERITED DISEASE
Last updated in GTR: 2024-05-13
View version history
Last annual review date for the lab: 2024-05-13 LinkOut
At a Glance
Conditions (1): Help
Dens evaginatus
Chromosomal regions/ Mitochondria (1): Help
Whole exome
Study description: Help
Our laboratory conducts analyses to characterize the underlying genetic cause(s) …
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Individuals with tuberculated tooth cusps and a positive family history
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: 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 (2)
  • MULTIPLE MORPHOLOGIC DENTAL ANOMALIES. REPORT OF A CASE. ROBBINS IM, et al. Oral Surg Oral Med Oral Pathol. 1964;17:683-90. doi:10.1016/0030-4220(64)90376-7. PMID: 14131590.
  • Lobodontia--a rare inherited dental anomaly. Report of an affected family. Brook AH, et al. Br Dent J. 1979;147(8):213-5. doi:10.1038/sj.bdj.4804326. PMID: 290365.
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 tooth morphological defects in novel gene(s).
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 tuberculated tooth cusps and a positive family history
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
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Technical Information
Test Procedure: Help
Whole exome sequencing and bioinformatic analysis
View citations (1)
  • Wang SK, Hu Y, Simmer JP, Seymen F, Estrella NM, Pal S, Reid BM, Yildirim M, Bayram M, Bartlett JD, Hu JC. Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. J Dent Res. 2013;92(3):266-71. doi:10.1177/0022034513475626. Epub 2013 Jan 25. PMID: 23355523.
Test Confirmation: Help
Testing family members and using new sample
Test Comments: Help
When whole exome sequencing is used, we will evaluate variants of genes associated with tooth development.
Additional Information
Consumer resources:

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