Amelogenesis Imperfecta, Type IF
Research Genetic test
offered by
GTR Test Accession: Help GTR000559497.5
Last updated in GTR: 2024-05-13
Last annual review date for the lab: 2024-05-13 LinkOut
At a Glance
Amelogenesis imperfecta type 1F
Genes (1): Help
AMBN (4q13.3)
Our laboratory conducts analyses to characterize the underlying genetic cause(s) …
Currently closed
Individuals with generalized thin enamel and a positive family history …
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
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 (1)
  • Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2014;23(20):5317-24. doi:10.1093/hmg/ddu247. Epub 2014 May 23. PMID: 24858907.
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.
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Individuals with generalized thin 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
Total methods: 2
Method Category Help
Test method Help
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)
  • Lu T, Li M, Xu X, Xiong J, Huang C, Zhang X, Hu A, Peng L, Cai D, Zhang L, Wu B, Xiong F. Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders. Int J Oral Sci. 2018;10(3):26. doi:10.1038/s41368-018-0027-9. Epub 2018 Sep 03. PMID: 30174330.
  • Liang T, Hu Y, Smith CE, Richardson AS, Zhang H, Yang J, Lin B, Wang SK, Kim JW, Chun YH, Simmer JP, Hu JC. AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity. Mol Genet Genomic Med. 2019;7(9):e929. doi:10.1002/mgg3.929. Epub 2019 Aug 11. PMID: 31402633.
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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