TABLE 1.
Witkop’s classification of amelogenesis imperfecta phenotypes and associated mode of inheritance (Witkop and Sauk, 1976; Witkop 1988) and current knowledge about corresponding associated genes.
| TYPE | Class | Phenotype | Mode of inheritance | Phenotype OMIM number # | Genes |
|---|---|---|---|---|---|
| I -HYPOPLASTIC | IA | HYPOPLASTIC, PITTED | AD | 104530 | LAMA3, LAMB3, LAMC2, COL7A1, COL17A1, ITGB6/4 |
| 616221 | |||||
| IB | HYPOPLASTIC, LOCAL | AD | 104500 | ENAM | |
| IC | HYPOPLASTIC, LOCAL | AR | 204650 | ENAM | |
| 617297 | ACP4? | ||||
| ID | HYPOPLASTIC, SMOOTH | AD | 620104 | SP6? | |
| IE | HYPOPLASTIC, SMOOTH | XLD | 301200 | AMELX, ARHGAP6, HCCS? | |
| IF | HYPOPLASTIC, ROUGH | AD | 616270 | AMBN | |
| IG | ENAMEL AGENESIS | AR | 204690 | FAM20A | |
| IH | AR | 616221 | ITGB6 | ||
| IJ | AR | 617297 | ACP4 = ACPT | ||
| IK | AD | 620104 | SP6 | ||
| II -HYPOMATURATION | IIA | HYPOMATURATION, PIGMENTED | AR | 204700 | KLK4, MMP20, WDR72, ODAPH = C4orf26, SLC24A4, GPR68 |
| 612529 | |||||
| 613211 | |||||
| 614832 | |||||
| 615887 | |||||
| 617217 | |||||
| IIB | HYPOMATURATION | XLR | 301200 | AMELX? | |
| IIC | SNOW CAPPED TEETH | XL | 301200 | AMELX—ARHGAP6 | |
| IID | SNOW CAPPED TEETH | AD | ? | ? | |
| III -HYPOCALCIFIED | IIIA | AD | 130900 | FAM83H ( AD ) , AMTN ( AD ) | |
| 617607 | |||||
| IIIB | AR | 618386 | RELT ( AR ) (IIIC?) | ||
| IV -HYPOMATURATION-HYPOPLASTIC WITH TAURODONTISM | IVA | HYPOMATURATION-HYPOPLASTIC WITH TAURODONTISM | AD | 104510 | DLX3 |
| IVB | HYPOPLASTIC-HYPOMATURATION | AD | 104510 | DLX3 | |
| WITH TAURODONTISM | |||||
| V -SYNDROMIC AI | TSC1, FAM20A, DLX3, LTBP3, CNNM4, ROGDI, SLC13A5, SLC10A7, GALNS, AIRE, ORAI1, STIM1, PORCN, PEX1, PEX6, PEX26, CLDN16, CLDN19, FAM20C, SLC4A4, ATP6V1A … |
Bold values correspond to the original Witkop’s classification.