|
| Disease | PTEN defect | Clinical symptoms | Cancer susceptibility |
|
| Cowden’s syndrome [23, 24] | Splice variants | Trichilemmonas, macrocephaly, papillomatous papules | Breast (65%), thyroid (75%), endometrium (5–10%) |
| Deletion: coding sequence |
| promoter (10%) |
| Nonsense mutation |
| Missense mutation (85%): |
| C124: no phosphatase activities, G129: no lipid phosphatase activity, K289: no nuclear translocation |
|
| The Bannayan-Riley-Ruvalcaba syndrome [23, 24] | Deletion (11%) | Macrocephaly, intestinal polyposis, developmental delay, lipomas, speckled penis in male | Breast, thyroid, endometrium, rare colorectal carcinoma |
| Nonsense mutation |
|
Missense mutation (60%) |
|
|
|
The Lhermitte-Duclos disease [25] |
Splice variants |
Ataxia, increased intracranial pressure, seizures | Not demonstrated |
| Deletion |
| Nonsense mutation |
| Missense mutation (80%) |
|
| Proteus/Proteus-like syndrome [26] | Missense mutation (20 and 50%, resp.) | Epidermal nevus, disproportionate overgrowth of the skull, limbs, vertebrate, Lipomas, vascular malformation | rare events: cystadenoma of the ovary, testicular tumors, central nervous system tumors, parotid monomorphic adenomas |
|
| Autism [27] | Missense mutation (around 10%) | Sometimes associated with macrocephaly | Not demonstrated |
|
