PMC2842984_01
Pedigree chart. (Males are indicated by squares, females are circles, sex unknown are diamonds, affected shaded in, and non-penetrant indicated by dark circles in the unshaded symbols. Except for the proband (indicated by arrow), affected kindred were reported by the proband's father.
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F1
His father indicated a history significant for AI, as reported to him by his family dentist, who had performed extensive dental rehabilitation on him over the years (Figure 1).
Clinical presentation of patient (male: 9y/11m) with autosomal hypoplastic AI. Teeth are smooth and lacking proximal contacts with a generalized yellow color.
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F2
There was no clinical evidence of pitting, grooves, or other irregularities in the enamel (Figure 2).
Panograph of patient (male: 9y/11m) with autosomal hypoplastic AI. Note the permanent molars are unerupted, with the maxillary first molars appearing externally resorbed.
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F3
Radiographically, the unerupted permanent maxillary first molars appeared malformed with resorption of a portion of the clinical crowns (Figure 3).
Extracted maxillary permanent first molars with crown resorption.
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F4
The 2 permanent maxillary molars appeared to have deformed dentin, a direct communication with the pulp chambers in both teeth, and little or no enamel (Figure 4).
Scanning electron micrographs of fractured teeth. A) Normal enamel surface (E) and prismatic fractured enamel layer. B) In the proband's permanent maxillary molar, the enamel lacked any prismatic architecture and was extremely thin (Line ~10 mum) (E = Enamel, D = Dentin; original magnification (1400X).
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F5
The analysis revealed that the enamel lacked any prismatic architecture and was extremely thin (Figure 5).
Chromatograms for Enam mutation (c.1258_1259insAG): A. DNA sequence of the proband, showing he is homozygous for the mutation. The AG insertion is indicated by a bracket, and generates a premature stop at codon 448. B. DNA sequence of the proband's father, who is heterozygous for the insertion, with the location indicated by an arrow.
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F6
The proband was homozygous for ENAM mutation c.1258_1259insAG, while the parents were both heterozygous (Figure 6).