Cohort description and diagnostic yield per disease category
| Disease | Number of patients | Diagnostic yield, N (%) |
|---|---|---|
| Isolated AI | 52 (51*) | 14 (27%) |
| Of which confirmed AI | 51 (50*) | 15 (29%, 30%*) |
| Of which suspected AI | 1 | 0 (0%) |
| Syndromic AI | 14 | 1 (7%) |
| Enamel renal syndrome | 1 | 1 (100%) |
| Mucopolysaccharidosis IV A | 1 | 0 (0%)† |
| Kohlschutter Tonz (suspected) | 1 | 0 (0%) |
| Osteogenesis imperfecta (suspected) | 1 | 0 (0%) |
| Spondyloepiphyseal dysplasia | 1 | 0 (0%)† |
| Undefined syndrome | 9 | 0 (0%) |
| Isolated STHAG | 21 | 15 (71%) |
| Syndromic STHAG | 4 | 2 (50%) |
| Ectodermal dysplasia | 3 | 1 (33%) |
| Intellectual disability with STHAG | 1 | 1 (100%) |
| Isolated DGI | 5 (4*) | 5, 4* (100%) |
| Syndromic DGI | 2 | 1 (50%) |
| Goldblatt syndrome (suspected) | 1 | 0 (0%) |
| Osteogenesis imperfecta | 1 | 1 (100%) |
| Isolated DD | 2 | 1 (50%) |
| Otodental syndrome | 1 | 1 (100%) |
| Primary failure of tooth eruption | 2 | 0 (0%) |
| Total | 103 (101*) | 40, 39* (39%) |
*Number of unrelated patients.
†Likely pathogenic mutations were identified in GALNS in these patients.
AI, amelogenesis imperfecta; DD, dentin dysplasia; DGI, dentinogenesis imperfecta; STHAG, selective tooth agenesis.