ENAM Mutations with Incomplete Penetrance
JOURNAL OF DENTAL RESEARCH, vol.93, no.10, pp.988-992, 2014 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 93 Issue: 10
- Publication Date: 2014
- Doi Number: 10.1177/0022034514548222
- Journal Name: JOURNAL OF DENTAL RESEARCH
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.988-992
- Keywords: amelogenesis imperfecta, hypoplastic, enamel, tooth, enamelin, expressivity, AMELOGENESIS IMPERFECTA, GENE, IDENTIFICATION, PHENOTYPE, LAMB3
- Istanbul University Affiliated: Yes
Abstract
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. Affected individuals were heterozygous for the mutation in each family. Segregation analysis within each family revealed individuals with incomplete penetrance or extremely mild enamel phenotype, in spite of having the same mutation with the other affected individuals. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.