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Phenotype of ENAM Mutations is Dosage-dependent

¹ Clinical Research Core, NIDCR, NIH, Bethesda, MD, USA;
² Department of Pedodontics, School of Dentistry, Istanbul University, Istanbul, Turkey;
³ Office of the Clinical Director, NHGRI, NIH, Bldg 10/CRC 3-2551, 10 Center Dr., Bethesda MD 20892, USA;
⁴ Department of Periodontology, School of Dentistry, Istanbul University, Istanbul, Turkey; and
⁵ Section of Craniofacial and Dental Genetics, NIDCR, NIH, Bethesda, MD;

^* corresponding author, shart{at}mail.nih.gov

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_12947insAGTCAGTACCAGTACTGTGTC) 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.

KEY WORDS: amelogenesis imperfecta • enamel • enamel pitting • gene dosage • enamelin.

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