TABLE 1.
Clinical Description and Mutations Identified in this Study*
| Family | Clinical Description | Mutation |
|---|---|---|
| DGI-7 | Classic DGI | c.13511G4T |
| DD-2 | Primary teeth appear opalescent; histologically the primary teeth showed coronal mantle dentin that was more regular compared to circumpulpal dentin and the dentinal tubules in the circumpulpal dentin were sparse and highly branched; permanent teeth exhibited normal histology | c.1870_1873delTCAG |
| DD-3 | Classic DD | c.1918_1921delTCAG |
| DGI-1 | Teeth appear opalescent-brown with extensive loss of enamel from occlusal surfaces. Underlying exposed dentin is reddish-brown. Radiographically, anterior and posterior teeth show cervical constriction and bulbous appearing crowns. Pulp chambers and root canals are obliterated, particularly for anterior teeth, pulps of posterior teeth are reduced in size. Periapical radiolucencies are associated with four posterior teeth and one anterior tooth. Patient reports no pain associated with any teeth. | c.49C4T |
| DGI-2 | Teeth appear clinically to have normal shape and size with an opalescent-amber appearance. Radiographically, posterior teeth show a cervical constriction with bulbous crowns. Most pulp chambers are obliterated, and crescent shaped pulps are evident in several molars. | c.2272delA |
| DGI-3 | Classic DGI | c.2525delG |
| DGI-4 | Classic DGI | c.2525delG |
| DGI-5 | Classic DGI | c.2525delG |
| DGI-6 | Classic DGI | c.2525delG |
*
Reference sequence NM_014208.