Table 2 Clinical observations and ASMT activity in B lymphoblastoid cell line of patients with ID and ASMT mutations.
Individuals | Variants | ASMT activity (pmol/mg prot/30 min) | Clinical observations | Other known genetic anomalies |
|---|---|---|---|---|
Patient D27 | N13H | 1.5 | Mild ID. No other abnormalities or autistic features. | None |
Patient P42 | N17K | 1.2 | IQ:76, hyperkinesis, language delay, attention deficit and impulsivity, no epilepsy, no dysmorphic features. | ZNF41 mutation |
Patient D33 | V171M | 1.6 | Moderate ID, spasticity and severe language delay. No sleep-wake anomaly. | MECP2 duplication |
Patient N6 | IVS5+2T>C | 0.9 | Some autistic features; some compulsive behavior. Normal sleep pattern, although sleeps lightly and is easily wakened. | None |
Patient P104 | IVS7+1G>T | ND | Moderate ID, hyperactivity, attention deficit. No dysmorphic features. No evidence for sleeping problems or autistic features. | ARX duplication |
Patient N79 | E288D | 0.9 | Mild ID, epilepsy, dysmorphic features, scoliosis, strabismus, epilepsy, corpus callosum agenesis, subdural hygroma, hypermetry. Normal sleep pattern, although sleeps lightly. Some autistic features, with relatively low expressive communication and interpersonal relations, and compulsive behavior. | None |
Patient T76 | E288D | 2.2 | Severe ID, a few words. Dysmorphic features, hypotonia. Abnormal EEG, moderately enlarged lateral ventricles. No evidence for autistic features ('friendly behavior'). | FG syndrome |
Patient L45 | L298F | 1.7 | Severe ID and no speech, however good social and eye contact. Never walked. No evidence for sleeping problems, or autistic features. | MCT8 mutation |
Controls (n = 31) median (range) | WT | 3.8 (0.2 - 9.5) |