TABLE II.
Clinical Findings in Our Patient and in Other Patients With Autism Spectrum Disorders Carrying PTEN Mutations Described in the Literature
| Clinical finding | Present case | Zori et al. [1998] | Parisi et al. [2001] | Goffin et al. [2001] | Delatycki et al. [2003] |
Butler et al. [2005] |
||
|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | ||||||
| Sex | Male | Male | Male | Male | Male | Male | Male | Male |
| Age (y) | 5 | 11 | 8 | 9 | 4 | 4 | 3.5 | 2.5 |
| Neonatal | ||||||||
| Birth weight (g) | 5,260 (+4.2 SD) | 3,430 (50th centile) | ? | 3,000 (50th centile) | 3,160 (20th centile) | 4,100 (90th centile) | 5,000 (+3 SD) | 3,400 (97th centile) |
| Birth length (cm) | 54 (+2.6 SD) | ? | 90–97th centile | 49 (50th centile) | 49.5 (50th centile) | ? | ? | 53.8 (95th centile) |
| Head circumference | 44 (+8 SD) | ? | 90–97th centile | 34 (50th centile) | 36 (50th centile) | ? | “Large head” | ? |
| Macrocephaly (cm) | 63 (+9.6 SD) | 59 (+3.7 SD) | 58.8 (+4.6 SD) | 59.9 (+5.2 SD) | 59.3 (+7 SD) | 62 (+8 SD) | 61.1 (+7 SD) | 56.5 (+4.5 SD) |
| Height (cm) | 114 (+1.7 SD) | Normal | 95th centile | 139 (+1.7 SD) | 107 (80th centile) | 109.8 (90th centile) | ? | 96 (97th centile) |
| Weight (kg) | 29.3 (+6 SD) | Normal | 95th centile | 34.1 (+1.7 SD) | 18 (75th centile) | 27.4 (+4 SD) | ? | ? |
| Neurological | ||||||||
| Hypotonia | − | + | ? | + | ? | − | + | − |
| ASD | Autism | Autistic behavior | Autistic behavior | Autism | ASD | Autism | Autism | Autism |
| Mental retardation | + | + | + | + | + | ? | + | + |
| Motor delay | + | + | + | + | + | ? | + | ? |
| Speech delay | + | + | + | + | + | + | + | ? |
| Seizures | − | − | − | − | − | − | − | Possible |
| MRI/CT | Normal | Normal | ND | Normal | Venous angioma in frontal lobe, dilated perivascular spaces | Marked dilatation of perivascular spaces | Normal | Normal |
| Hands/feet | Bilateral feet polydactyly | Lacked 2nd toes | − | − | Preaxial polydactyly of the right hand | − | − | − |
| Skin | ||||||||
| Hyperpigmented lesions | 2 café au lait spots, mongolian blue patch | Multiple nevi | − | − | 1 café au lait spot, mongolian blue patch | − | − | − |
| Lipomas | − | − | 1 lipoma in the back | − | − | − | − | − |
| Penile macules | − | + | + | − | − | − | − | + |
| Gastrointestinal polyps | − | Rectal polyps | − | − | − | − | − | − |
| Thyroid disease | − | Goiter and thyroid carcinoma at 18 years | − | − | − | − | − | − |
| Other | − | Inguinal hernias | Downslanting palpebral fissures | Scrotal tongue, open ductus Botallis, pulmonary valvular stenosis | Wormian bones | Epicanthal folds, flattened nasal bridge | Joint laxity, bilateral plantar creases, hydroceles | High arched palate, long ears |
| PTEN mutation | D326N | R130X | R130X | Y178X | c.177-179delA | H93R | D252G | F241S |
| Inheritance | De novo | Maternal | Paternal | Maternal | Paternal | De novo | (Father not tested) | ? |
| Familial macrocephaly | − | Maternal (CS) and paternal | Paternal (BRRS) and 3 affected sibs | Maternal (CS) | Paternal (CS +LDD) | Paternal | Paternal | ? |
ASD, Autism spectrum disorder; BRRS, Bannayan–Riley–Ruvalcaba syndrome; CD, Cowden syndrome; LDD, Lhermitte–Duclos disease; ND, not done.