Table 2.
Clinical features of individuals with truncating CACNA1C variants.
| Individual | P15 | P16a | P16b | P17 | P18 | P19 | P20 | P21 | P22a | P22b | P22c |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Variants | p.Gln80Leufs*49 | p.Arg161* | p.Arg161* | p.Trp528* | splice | p.Val996Trpfs*19 | p.Arg1377Profs*61 | p.Leu1518Profs*3 | p.Arg1989* | p.Arg189* | p.Arg1989* |
| c.239_244delAGCGGAinsTTGCAGCTCC | c.481C>T | c.481C>T | c.1584G>A | c.2663+1G>C | c.2926delG | c.4129dup | c.4553del | c.5860C>T | c.5860C>T | c.5860C>T | |
| Inheritance | de novo | Paternal | de novo | Paternal | not paternal, maternal sample unavailable for testing | de novo | de novo | de novo | Paternal | Paternal | Unknown |
| Age at most recent exam | 15 years | 6 years | 33 years | 14.5 years | 16 years | 6 years | 4 years | 40 years | 2 years | 3 years | 32 years |
| Sex | Female | Male | Male | Female | Male | Male | Female | Female | Male | Male | Male |
| Development | |||||||||||
| Motor delay | − | + | − | − | − | + | − | + | − | − | Unknown |
| Ambulatory (age started walking) | + (15 months) | + (14 months) | + | + (12 months) | + (12 months) | + (18 months) | + (12 months) | + (26 months) | + (10 months) | + | + |
| Abnormal Muscle tone | − | Hypotonia | − | − | − | Unknown | − | Unknown | Hypotonia | Hypotonia | Unknown |
| Abnormal balance/coordination | − | + | − | − | + | + | − | − | − | + | − |
| Tremor | − | High frequency tremor | − | − | − | − | − | − | − | Intention tremor | − |
| Language delay | + | + | + | + | + | + | + | + | + | + | Unknown |
| Verbal Ability | + | − (2 words only) | + | + | + | + | + | + | − (Couple words only) | − (Several words only) | + |
| Clinical Diagnosis of Autism | + | + | − | − | − | − | + | − | + | + | − |
| ADHD | + | - | − | - | + | + | _ | _ | − | − | − |
| Cognition | IQ in low-normal range | Mild -moderate intellectual disability | Learning disability with normal IQ. | Borderline intellectual disability | Moderate intellectual disability | Normal | Moderate global developmental delay | Moderate intellectual disability | Unknown | Unknown | Learning disability |
| Epilepsy | |||||||||||
| Seizures | − | − | − | − | − | − | − | − | − | − | + |
| Abnormal Brain MRI | Chiari 1 malformation | N/A | N/A | − | N/A | − | N/A | N/A | N/A | N/A | N/A |
| Cardiac abnormalities | |||||||||||
| Abnormal ECG/Holter | − | − | − | N/A | N/A | − | N/A | N/A | N/A | − | N/A |
| Abnormal ECHO | N/A | N/A | N/A | N/A | N/A | − | N/A | N/A | N/A | N/A | N/A |
| Orthopedic abnormalities | Scoliosis | − | Unknown | − | Pes planus, genu valgum | − | − | − | Metatarsus adductus | − | Unknown |
| Ophthalmological abnormalities | − | − | − | Unknown | − | Unknown | − | Strabismus | − | − | Unknown |
| Dysmorphic features | − | + | − | + | + | + | + | − | + | + | − |