Summary of BZS mutations in PTEN and the coexistence of identical mutations in families with CS and BZS
Mutation | Phenotype | Reference | ||
---|---|---|---|---|
1 | S170R | BZS | 20 | |
2 | 520del25 | BZS | 20 | |
3 | 1390delC | BZS | 32 | |
4 | Y178X | BZS | 32 | |
5 | Q214X | BZS | 32 | |
6 | E256X | BZS | 32 | |
7 | Y68H | BZS | 20 | |
Y68H | CS | 28 | ||
8 | R233X | BZS | 20 | |
R233X | CS | 30 | ||
9 | R335X | CS, BZS | Present case | |
R335X | CS | 30 | ||
R335X | CS | 30 | ||
R335X | CS | 20 |