Aim: To investigate the thickness and hardness of teeth affected by a 2-bp deletion (c.561_562delCT) in the DLX3 gene.
Methods and materials: Extracted maxillary deciduous second molar was collected from the affected individual at age 12 years 7 months. Samples were sectioned buccolingually after embedding in epoxy resin. We measured the enamel thickness and microhardness and performed an elemental analysis using an electron probe microanalyser.
Results: On average, the hardness of the enamel with a 2-bp deletion in DLX3 was about 53% of normal enamel hardness. The mutant enamel thickness was about half of the thickness of the normal control. The calcium level in the enamel with the 2-bp deletion was slightly decreased, while the magnesium level was slightly increased, in comparison to levels measured for normal teeth.
Conclusion: This study shows that enamel affected by a 2-bp deletion in DLX3 has reduced thickness as well as diminished microhardness. These data may explain the severe attrition and interdental spacing observed in affected individuals.