Table 1.
Phenotypic comparisons of known cases of heterozygous c.85C>T CAMK2B mutation.
| Clinical feature | Patient (proband) | Sister | Mother | Individual 15a |
|---|---|---|---|---|
| Age of symptom onset | 11 months | ND | NA | Unknown |
| Gender | Female | Female | Female | Female |
| Ethnicity | European | European | European | Unknown |
| Mutation | Heterozygous c.85C>T p.Arg29Ter Maternally inherited |
Heterozygous c.85C>T p.Arg29Ter Maternally inherited |
Heterozygous c.85C>T p.Arg29Ter Uncertain inheritance |
Heterozygous c.85C>T p.Arg29Ter De novo |
| Other genetic findings | None | ND | ND | Parentally inherited heterozygous VUS in ALOXE3, RAG1, and TLR1 |
| Global developmental delay | +Severe | − | − | +Mild |
| Seizures | + | − | − | + |
| EEG abnormality | + | ND | ND | ND |
| Visual impairments | − | + | − | − |
| Speech delay | + | + | − | + |
| Abnormal affect/emotion regulation | + | − | − | − |
| Gross motor problems | − | + | − | − |
| Gastrointestinal abnormalities | − | − | − | − |
ND: not described; NA: not applicable; VUS: variant of unknown significance; EEG: electroencephalography.
a
Individual 15 as described in Kury et al.1