Table 2 Clinical characteristics of patients with CHD2 single-point DNA mutation a
Characteristics | Rauch et al.[12] | Carvill et al.[11] | Allen et al.[13] | Suls et al.[28] | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Gender | F | M | F | F | M | M | M | M | M | F | M |
Age (yr) | 5.75 | 17 | 12 | 29 | 12 | 15 | 2.5 | Unknown | 6 | 24 | 6 |
Protein change (type) | p.Thr604 Leufs*19 (frame shift) | p.Glu1412 Glyfs*64 (frame shift) | p.Arg121* (frame shift) | p.Gly491 Valfs*13 (frame shift) | p.Arg1644 Lysfs*22 (frame shift) | p.Trp548Arg (missense) | p.Leu823Pro (missense) | c.1502+1 G>A (splice donor) | c.1810-2A>C (p.?) | c.4971G>A (p.Trp1657*) | c.1396C>T (p.Arg466*) |
Inheritance | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo |
Development | Globally delayed | Mild delay | Normal prior to epilepsy | Unspecified delay | Normal before seizure onset | Unspecified delay | Unspecified delay | Unspecified delay | Normal prior to epilepsy | Normal prior to epilepsy | Subtle motor and speech delay |
Cognition | Mild ID | Moderate ID | Severe ID | Severe ID | Severe ID | Moderate ID | Severe ID | Unknown | Moderate ID | Moderate ID | Mild ID |
Behaviour | Uncontrolled behavioural anomalies | ASD Behavioural problems | Unknown | Unknown | Unknown | Unknown | ASD | Unknown | Unknown | Unknown | ASD |
ADHD | |||||||||||
Seizure type (age of onset) | AS (5 yr) | AtS (1 yr), AS, FS, MJ, MJ-AS, TC | MJ (1 yr), MA, NCS, TC, TS | Atypical AS (1 yr), AtS, LGS, MJ, NCS, SE, TC, TS | AtS (2 yr), MJ, SE, TC | TC (3 yr), FDS, H, MJ | MJ (2.5 yr), FDS, MJ, MA, TS | TC (6 mo), Atypical AS, AtS, FDS, LGS, MS | FS (14 mo), Atypical AS, MS, SE, TC | FS (2 yr), MA, MS, TC | TC (3.5 yr), Atypical AS, AtS, FS, H, MS |
Brain MRI | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | Normal | Normal | Normal | Nonspecific atrophy |
Other | Right hemibody weakness | Dysarthria | Mild ataxia | ||||||||
Ataxia | |||||||||||
Other features | Duane anomaly | Language regression after corpus callosotomy | |||||||||