Table 1 Physical, neurodevelopmental and behavioural features of patients identified with homozygous CNTNAP2 mutations resulting in CASPR2 deficiency disorder
Strauss et al., 2006, Jackman et al., 2009 | Zweier et al., 2009 Orrico et al., 2001 | Watson et al., 2014 | This study | ||
|---|---|---|---|---|---|
Patients | 18 | 2 | 3 | 2 | |
Mutation | DNA variant | c.3709delG | CNV del ex 2–9 | CNV del ex 3 | CNV del ex 2–3 |
Effect | Early STOP codon | In frame deletion | Frameshift, early STOP codon | Frameshift, early STOP codon | |
Resulting protein | I1253X | del.33–500 | A156X | L39X | |
Development | Pregnancy | NR | Normal | Normal | Normal |
Intellectual disability | Severe | Severe | Severe | Severe | |
Psychomotor delay | + | Mild | + | + | |
Gross motor delay | + | Mild | + | - | |
Ataxic cerebral palsy | NR | NR | + | - | |
Morphology | Dysmorphic | NR | + | Mild | + |
Low forehead/hairline | NR | + | NR | + | |
Arched palate | NR | - | NR | + | |
Dental malocclusion | NR | - | NR | + | |
Obesity | NR | - | NR | + | |
Gait | NR | NR | Broad-based ataxic gait | Awkward gait (only one sib) | |
Behaviour | Autism | + | - | - | + |
Autistic features | + | + | + | + | |
Motor stereotypies | NR | + | + | + | |
Communicative impairment | + | + | + | + | |
Behavioural problems | + | + | + | + | |
Inertia/apathy | NR | NR | NR | + | |
Agression | + | NR | NR | + | |
ADHD | + | NR | restlessness | - | |
Epilepsy | Seizures | Yes | Yes | Yes | Yes |
Age onset (months) | 13–20 | 22–30 | 24 | 20–36 | |
Therapy | Refractive | Refractive | Carbamazepine or valproate | P1 - Carbamazepine, P2 - Refractive | |
Language | Language impairment/regression | + | + | + | + |
Vocal tics | NR | NR | NR | + | |
Limited/absent language | + | + | + | + | |
Neurological | Dysplasia | + | + | NR | + |
Breathing/other | Hyperventilation | NR | + | NR | - |
Apnea | NR | +/− (only one sib) | NR | - | |
Cyanoses | NR | +/− (only one sib) | NR | + | |
Loss of consciousness | NR | +/− (only one sib) | NR | + |