Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations

Koruyucu M., Kang J., Kim Y. J., Seymen F., Kasimoglu Y., Lee Z. H., ...Daha Fazla

JOURNAL OF DENTAL RESEARCH, cilt.97, sa.9, ss.1064-1069, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 97 Sayı: 9
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1177/0022034518763152
  • Dergi Adı: JOURNAL OF DENTAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1064-1069
  • Anahtar Kelimeler: amelogenesis imperfecta, enamel, tooth, enamelin, penetrance, whole exome sequencing, DOMINANT AMELOGENESIS IMPERFECTA, EPIDERMOLYSIS-BULLOSA, DELETION, IDENTIFICATION, DEFECTS, PROTEIN, LAMB3
  • İstanbul Üniversitesi Adresli: Evet

Özet

Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth. Family 2 had a nonsense mutation in the last exon, c.1842C>G, p.(Tyr614*), that was predicted to truncate the protein by 500 amino acids. Participating individuals had at least 1 mutant allele, while the proband had a homozygous mutation. Most interestingly, the clinical phenotype of the individuals harboring the heterozygous mutation varied from a lack of penetrance to a mild hypoplastic enamel defect. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.