Table 1.
Molecular Heterogeneity of Different Forms of EB
| Disease | Gene | Cytogenetic Location | Inheritance | Proportion of EB Attributed to Mutations in this Gene |
|---|---|---|---|---|
| Simplex Epidermolysis Bullosa (EBS) | KRT5 | 12q13.13 | AD | 75% of EBS-AD cases; |
| KRT14 | 17q21.2 | AR, AD | 15 cases of EBS-AR Have been reported with KRT14 mutations | |
| TGM5 | 15q15.2 | AR | ||
| DSP | 6p24.3 | AR | ||
| PKP1 | 1q32.1 | AR | ||
| JUP | 17q21.2 | AR, AD | ||
| PLEC | 8q24.3 | AR | ||
| DST | 6p12.1 | AR | ||
| ITGB4 | 17q25.1 | AR | ||
| COL17A1 | 10q24.3-q25.1 | AR | ||
| Junctional Epidermolysis Bullosa (JEB) | LAMA3 | 18q11.2 | AR | 9% of all JEB cases; specific mutations in the LOC (Shabir) syndrome |
| LAMB3 | 1q32.2 | AR | 70% of all JEB cases | |
| LAMC2 | 1q25.3 | AR | 9% of all JEB cases | |
| COL17A1 | 10q24.3-q25.1 | AR | 10% of all JEB cases | |
| ITGA6 | 2q31.1 | AR | A few cases reported | |
| ITGB4 | 17q25.1 | AR | Many cases reported | |
| ITGA3 | 17q21.33 | AR | A few cases reported | |
| Dystrophic Epidermolysis Bullosa (DEB) | COL7A1 | 3p21.31 | AR, AD | 100% of all DEB cases |
| Kindler Syndrome (KS) | FERMT1 | 20p12.3 | AR | 100% of all KS cases |
AR, autosomal recessive; AD, autosomal dominant