Table I.
Sleep abnormalities in four subjects.
| Patient No. |
Age | Gender | Molecular Diagnosis |
Polysomnographic Abnormalities | Melatonin Rhythm |
References |
|---|---|---|---|---|---|---|
| 1106 | 11y | F |
RAI1 mutation C2878T (nonsense) |
Multiple nocturnal awakenings (4, including one of 1h 45m), mildly decreased total sleep time (6h 57m), increased percentage REM sleep (32%) |
Inverted | [Bi et al., 2004, 2006] |
| 526 | 27y | F |
RAI1 mutation 5265delC (frameshift) |
Multiple complete or partial arousals (15), one brief central apneic event (10s) associated with oxygen desaturation (to 87%) |
Inverted | [Bi et al., 2004, 2006; Edelman et al., 2007; Girirajan et al., 2006; Slager et al., 2003] a |
| 1206 | 7y | F |
Common SMS
deletion |
Multiple nocturnal awakenings (18), low percentage REM sleep (16%) |
Inverted | [Potocki et al., 2000, 2003] |
| 1123 | 31y | M |
Common SMS
deletion |
Multiple nocturnal awakenings (7), low total sleep time (4h 32m), low percentage REM sleep (1%) |
Inverted | [Chen et al., 1997; Liburd et al., 2001; Potocki et al., 2000, 2003] |
a
This patient reported in [Slager et al., 2003] as SMS156 (4929delC).
MSLT, multiple sleep latency test; REM, rapid eye movement.