ENAM mutations with incomplete penetrance.
F Seymen1, K-E Lee2, M Koruyucu1
1Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
Journal of Dental Research
|August 22, 2014
Summary
Two novel ENAM gene mutations cause hypoplastic Amelogenesis Imperfecta (AI) in Turkish families. Some individuals showed incomplete penetrance or mild phenotypes despite carrying the same AI-causing mutations.
Area of Science:
- Genetics
- Oral Biology
- Developmental Biology
Background:
- Amelogenesis imperfecta (AI) is a group of inherited disorders affecting tooth enamel formation.
- AI can manifest as an isolated condition or as part of a broader syndrome.
- Over ten genes are currently linked to various forms of AI.
Purpose of the Study:
- To identify the genetic cause of hypoplastic Amelogenesis Imperfecta in two unrelated Turkish families.
- To investigate novel mutations within the ENAM gene associated with AI.
Main Methods:
- Whole-exome sequencing was employed to identify genetic mutations in affected individuals.
- Segregation analysis was performed within families to confirm mutation inheritance patterns.
Main Results:
- Two distinct heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* and c.358C>T p.Gln120*) were identified in the probands.
- Affected individuals were heterozygous for these novel ENAM mutations.
- Segregation analysis revealed instances of incomplete penetrance and extremely mild enamel phenotypes in individuals with the identified mutations.
Conclusions:
- The identified novel ENAM mutations are associated with hypoplastic Amelogenesis Imperfecta.
- These findings expand the understanding of the clinical variability and penetrance of AI caused by ENAM gene defects.
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