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Amelogenesis Imperfecta, Type IB
Research Genetic test
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offered by
Dental Research Laboratory
GTR Test Accession: Help GTR000324331.12
INHERITED DISEASEORALMUSCULOSKELETAL ... View more
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
Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Genes (1): Help
ENAM (4q13.3)
Study description: Help
Our laboratory conducts analyses to characterize the underlying genetic cause(s) …
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Individuals with pitted enamel 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)
  • A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Mårdh CK, et al. Hum Mol Genet. 2002;11(9):1069-74. doi:10.1093/hmg/11.9.1069. PMID: 11978766.
  • ENAM mutations in autosomal-dominant amelogenesis imperfecta. Kim JW, et al. J Dent Res. 2005;84(3):278-82. doi:10.1177/154405910508400314. PMID: 15723871.
  • Simmer SG, Estrella NM, Milkovich RN, Hu JC. Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56. Clin Genet. 2013;83(2):195-7. doi:10.1111/j.1399-0004.2012.01887.x. Epub 2012 Apr 29. PMID: 22540999.
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 pitted enamel and a positive family history of hypoplastic enamel defect
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)
  • Chan HC, Mai L, Oikonomopoulou A, Chan HL, Richardson AS, Wang SK, Simmer JP, Hu JC. Altered enamelin phosphorylation site causes amelogenesis imperfecta. J Dent Res. 2010;89(7):695-9. doi:10.1177/0022034510365662. Epub 2010 May 03. PMID: 20439930.
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

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