Table 1.
Summary of Control and Patient Clinical Features
| Controls (n = 20)a | PTEN-Mutation-Positive Patients (n = 28)a | PTEN-Mutation-Negative Patients (n = 130)a | |
|---|---|---|---|
| Gender | |||
| Male | 7 (35.0) | 12 (42.9) | 10 (7.7) |
| Female | 13 (65.0) | 16 (57.1) | 120 (92.3) |
| Phenotype | |||
| CS | – | 17 (60.7)b | 63 (48.5) |
| CSL | – | 5 (17.9) | 62 (47.7) |
| BRRS | – | 5 (17.9) | 5 (3.8) |
| Mutation | |||
| R130X | – | 13 (46.4) | – |
| R233X | – | 5 (17.9) | – |
| R335X | – | 10 (35.7) | – |
| Clinical Features | |||
| Macrocephaly | – | 25 (89.3) | 53 (40.8) |
| Pathognomonic | – | 16 (57.1) | 28 (21.5) |
| Breast CA | – | 7 (43.8)c | 80 (66.7)c |
| Thyroid CA | – | 2 (7.1) | 32 (24.6) |
| Endometrial CA | – | 2 (12.5)c | 14 (11.7)c |
Pathognomonic features include the mucocutaneous lesions associated with CS (trichilemmomas, acral keratoses, and papillomatous papules).
a
Values are expressed as n (%).
b
One PTEN-mutation-positive sample had features consistent with both CS and BRRS.
c
Frequency among female patients.