GTR Test Accession:
Help
GTR000324334.12
Last updated in GTR: 2024-05-13
View version history
GTR000324334.12, last updated: 2024-05-13
GTR000324334.11, last updated: 2023-05-26
GTR000324334.10, last updated: 2022-06-24
GTR000324334.9, last updated: 2021-07-15
GTR000324334.8, last updated: 2018-08-17
GTR000324334.7, last updated: 2017-06-21
GTR000324334.6, last updated: 2017-02-24
GTR000324334.5, last updated: 2016-02-28
GTR000324334.4, last updated: 2015-03-01
GTR000324334.3, last updated: 2015-02-15
GTR000324334.2, last updated: 2014-03-03
GTR000324334.1, last updated: 2014-03-03
Last annual review date for the lab: 2024-05-13
LinkOut
At a Glance
Conditions (1):
Help
Amelogenesis imperfecta hypomaturation type 2A2
Genes (1):
Help
MMP20 (11q22.2)
Study description:
Help
Our laboratory conducts analyses to characterize the underlying genetic cause(s) …
Recruitment status:
Help
Currently closed
Individuals with hypoplastic, hypomaturtion enamel defect with a positive family …
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)
- Caterina JJ, Skobe Z, Shi J, Ding Y, Simmer JP, Birkedal-Hansen H, Bartlett JD. Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2002;277(51):49598-604. doi:10.1074/jbc.M209100200. Epub 2002 Oct 21. PMID: 12393861.
- MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Kim JW, et al. J Med Genet. 2005;42(3):271-5. doi:10.1136/jmg.2004.024505. PMID: 15744043.
- Premature stop codon in MMP20 causing amelogenesis imperfecta. Papagerakis P, et al. J Dent Res. 2008;87(1):56-9. doi:10.1177/154405910808700109. PMID: 18096894.
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 enamel defects in proven AI candidate genes, and also identify novel AI-causing 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 hypoplastic, hypomaturtion enamel defect with 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
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 (2)
- MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Kim JW, et al. J Med Genet. 2005;42(3):271-5. doi:10.1136/jmg.2004.024505. PMID: 15744043.
- 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 or using new sample
Test Comments:
Help
When whole exome sequencing is used, we will evaluate variants of known AI candidate genes and genes associated with tooth development.
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.