Table 2. Germline PTEN mutations identified in patients with ASDs and macrocephaly.
| ID | M/F | Age | Mutation | Proteina | OFC SD | PHTS features |
|---|---|---|---|---|---|---|
| 5130-01-001 | M | 7 | c. 420_421insA | p.H141TFS*39 | +5.37 | CAL, CNSH, DD, VN, PF |
| 5556-01-001 | M | 13 | c. 208C>G | p.L70V | +4.21 | Seiz, DD, Hash, L, OMP |
| 5724-01-002 | M | 11 | c. 3G>T | p.M1I | +3.94 | CAL, Seiz, OMP, PF |
| 5909-01-001 | M | 7 | c. 1003C>T | p.R335* | +3.58 | BN, DD, PF |
| 5708-01-001 | M | 11 | c. 209+5G>A | Splice-site mutation, intron 3 | +4.59 | CAL, DD, L, PF, TN |
| 5724-01-001 | M | 12 | c. 3G>T | p.M1I | +4.41 | Seiz, OMP, PF |
Abbreviations: BN, Benign skin neoplasm, CAL, Café-au-lait macules; CNSH, CNS hemangioma; DD, Developmental delay; FS, Frameshift; Hash, Hashimoto disease; L, Lipoma; VN, Vascular Neoplasm; OMP, Oral mucosal papillomatosis; PF, Penile freckling; Seiz, Seizure history; TN, Thyroid nodule.
a
Note that protein lysates show upregulation of the AKT and MAPK pathway reflected by increased P-AKT and P-MAPK42/44 on western blot27 (Lei and Eng, unpublished data).