Phenotype of ENAM mutations is dosage-dependent

Ozdemir D., Hart P., Firatli E., Aren G., Ryu O., Hart T.

JOURNAL OF DENTAL RESEARCH, cilt.84, sa.11, ss.1036-1041, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 84 Sayı: 11
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1177/154405910508401113
  • Dergi Adı: JOURNAL OF DENTAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1036-1041
  • Anahtar Kelimeler: amelogenesis imperfecta, enamel, enamel pitting, gene dosage, enamelin, AMELOGENESIS IMPERFECTA, CLASSIFICATION, NOMENCLATURE, GENOTYPE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Five mutations in the ENAM gene have been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotypes ranging from localized enamel pitting in carriers to severe hypoplastic AI. To determine the generality of ENAM mutations in hypoplastic AI, we sequenced the ENAM gene in ten Turkish families segregating autosomal hypoplastic AI. In two families, ENAM mutations were found. A novel nonsense mutation (g.12663C > A; p.S246X) was identified in one family segregating local hypoplastic AI as a dominant trait. Affected individuals in a second family segregating autosomal-recessive AI were compound heterozygotes for a novel insertion mutation (g.12946_12947insAGTCAGTACCAGTACTGT GTC) and a previously described insertion (g.13185_13186insAG) mutation. Heterozygous carriers of either insertion had a localized enamel-pitting phenotype. These findings substantiate that enamel phenotypes of ENAM mutations may be dose-dependent, with generalized hypoplastic AI segregating as a recessive trait and localized enamel pitting segregating as a dominant trait.