Previously reported EGR2 mutations
| No [Ref] | Mutation | Phenotype |
|---|---|---|
| 1 [1] | c.1225C>T | Familial CMT1 case with autosomal dominant transmission |
| R409W substitution 3rd zinc finger | ||
| 2 [1] | c.803T>a | 3 affected sibs (four boys) from consanguineous marriage with CH |
| I268N substitution inhihibitory domain R1 | ||
| 3 and 4 [6, 1] | c.[1146T>G + 1147G>T] | Patient with sporadic CH |
| S382R and D383Y substitution 2nd zinc finger | ||
| 5 [9] | c.1064A>T | Severe CMT1 case (de novo mutation) |
| D355V substitution 1st zinc finger | ||
| 6 [10, 11, 14] | c.1075C>T | 3 cases with DSS (new mutations) |
| R359W substitution α-helix 1st zinc finger | ||
| 7 [13] | c.1141C>T | Familial moderate severe CMT1 case with autosomal dominant transmission |
| R381C substitution 2nd zinc finger | ||
| 8 [12] | c.1142G>A | Familial CMT1 case with cranial nerve involvement (III, IV, V, VII, VIII, X, XI) |
| R381H substitution 2nd zinc finger |