ENAM mutations with incomplete penetrance.
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ABSTRACT:
SUBMITTER: Seymen F
PROVIDER: S-EPMC4293711 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Publications
ENAM mutations with incomplete penetrance.
Seymen F F Lee K-E KE Koruyucu M M Gencay K K Bayram M M Tuna E B EB Lee Z H ZH Kim J-W JW
Journal of dental research 20140820 10
Amelogenesis imperfecta (AI) is a genetic disease affecting tooth enamel formation. AI can be an isolated entity or a phenotype of syndromes. To date, more than 10 genes have been associated with various forms of AI. We have identified 2 unrelated Turkish families with hypoplastic AI and performed mutational analysis. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affecte ...[more]
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