Table 1.
Characteristics of patients with CIC mutations.
| 1 | 2-1 | 2-2 | 3 | 4 | |
|---|---|---|---|---|---|
| Age at latest evaluation (years) | 16 | 27 | 9 | 4 | 15 |
| Gender | Female | Female | Male | Male | Male |
| Nucleotide change (NM_015125.4) | c.1057C>T | c.1801_1808dupAAGAGACC | c.2571_2578delinsC | c.2974C>T | |
| Amino acid change | p.Arg353* | p.Glu604Argfs*127 | p.Thr859Alafs*63 | p.Gln992* | |
| Inheritance | De novo | De novo (presumed germline mosaicism) | De novo | Paternally inherited (father mosaic) | |
| ASD/Autistic features | + | − | − | + | + |
| Attention-deficit/hyperactivity | − | − | + | − | + |
| DD/ID | + | + | + | + | + |
| Seizures | + | + | + | − | − |
| Dysmorphic features | − | − | − | − | − |
| Head circumference at latest exam (cm) | 57.5 | N/A | 54 | 50.2 | 54 |
| Head circumference at latest exam (percentile) | 99th | N/A | 90th | 32nd | 27th |
| Latest MRI results | Multiple punctate foci of T2 hyperintensity within the subcortical white matter. | Normal brain MRI. | Normal brain MRI. | Single punctate focus of T2 hyperintensity within the right frontal lobe white matter. | Several periventricular T2 hyperintensities in the white matter, more concentrated in the parieto-occipital region. |
| Neurological symptoms at last exam | Normal muscle tone; normal deep tendon reflexes; no dyskinesia; no ataxia. | Normal muscle tone; normal deep tendon reflexes; normal gait; no ataxia. | Truncal hypotonia; normal deep tendon reflexes; normal gait; no ataxia. | Mild diffuse hypotonia; normal reflexes; no dyskinesia; no ataxia. | Normal muscle tone; hyperreflexia; no pyramidal syndrome; no ataxia. |
| Other | ALL, diastasis recti, mild telangiectasia. | Pulmonary stenosis. | Heart murmur, mild cutis marmorata telangiectasia. | Marfanoid habitus, stereotypic movements. | |
ASD: autism spectrum disorder, DD: developmental delay, ID: intellectual disability, ALL: acute lymphoblastic leukemia, N/A: data not available.