ENAM Mutations with Incomplete Penetrance

Seymen F., LEE K. -., Koruyucu M., Gencay K., Bayram M., Tuna E. B., ...Daha Fazla

JOURNAL OF DENTAL RESEARCH, cilt.93, sa.10, ss.988-992, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 93 Sayı: 10
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1177/0022034514548222
  • Dergi Adı: JOURNAL OF DENTAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.988-992
  • Anahtar Kelimeler: amelogenesis imperfecta, hypoplastic, enamel, tooth, enamelin, expressivity, AMELOGENESIS IMPERFECTA, GENE, IDENTIFICATION, PHENOTYPE, LAMB3
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.