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Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene Mutation at the Exon-Intron Boundary

¹ Research Group of Human Gene Therapy, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Hokkaido, Japan; and
² Pediatric Dentistry, Hokkaido University Graduate School of Dental Medicine N-13, W-7, Kita-ku, Sapporo, 060-8586,Hokkaido, Japan;

View larger version (81K): [in this window] [in a new window]   Figure 1. The clinical features of our AI family. (A) Pedigree of the family. An arrow indicates the proband. Asterisks indicate individuals examined clinically and genetically. (B) Top: Photograph of III-1 at the age of 3 showing the hypoplastic primary teeth with an anterior open bite. Middle: Photograph of III-2 showing the characteristic small, yellow permanent lower right first and second premolar teeth. Bottom: Photograph of II-1 showing local hypoplastic enamel defects characterized by the horizontal lesion located primarily at the middle third of the permanent lower left canine and first premolar teeth.

View larger version (61K): [in this window] [in a new window]   Figure 2. Detection of the enamelin gene mutation in the AI family. (A) Screening by SSCP analysis. SSCP analysis of exon 9 of the enamelin gene from AI family individuals and a normal control. An abnormal pattern is detected in the affected individuals (III-1, III-2, and II-1) but not in the unaffected family members (I-1, 2 and II-2, 3) or control (C). The symbols above each lane denote individuals shown in Fig. 1A. (B) DNA sequencing analysis. The affected individual III-1 has a single-G deletion at the exon 9-intron 9 boundary of the enamelin gene. The same deletion was confirmed in the other affected members (II-1 and III-2) but not in unaffected members (I-1, 2 and II-2, 3) or control individuals. Normal and mutant sequences at the exon 9-intron 9 boundary of the enamelin gene are indicated at top.

View larger version (24K): [in this window] [in a new window]   Figure 3. Possible consequences of a single-G deletion at the exon 9-intron 9 boundary of the enamelin gene. (A) Splice mutation. The mutation may introduce a non-functional splice donor site of intron 9, resulting in a probable skipping of exon 9 from the enamelin mRNA. In this case, 18 amino acids (179-196) coded by exon 9 would be absent from the protein. (B) Frame shift mutation. The mutation may preserve the functional splice donor site, resulting in a downstream frame shift at amino acid 196; this would create a premature stop codon at 277.

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