Phenotype of ENAM mutations is dosage-dependent.

  title={Phenotype of ENAM mutations is dosage-dependent.},
  author={Durmus Ozdemir and Patricia S. Hart and Erhan Firatli and Gamze Aren and Okhee H Ryu and Thomas C. Hart},
  journal={Journal of dental research},
  volume={84 11},
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… CONTINUE READING
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