Table 2

Summary of BZS mutations in PTEN and the coexistence of identical mutations in families with CS and BZS

MutationPhenotypeReference
1S170RBZS20
2520del25BZS 20
31390delCBZS32
4Y178XBZS 32
5Q214XBZS32
6E256XBZS 32
7Y68HBZS20
Y68HCS 28
8R233XBZS20
R233XCS 30
9R335XCS, BZSPresent case
R335XCS 30
R335XCS30
R335XCS 20