Table 1 Summary of clinical features associated with MSL2 PTVs.
| Â | Patient 1 | Patient 2 | Patient 3 |
|---|---|---|---|
Age (year) | 6 | 11 | 16 |
Sex | female | male | female |
MSL2 variants | (NM_018133.3):c.796-797delCT, p.(Leu266Valfs*5); De novo | (NM_018133.4):c.1047-1050del, p.Ser349Argfs*23; mother is negative and father not tested | (NM_018133.4):c.67 G > T, p.Gly23*; parents were not tested |
Growth | normal | normal | normal |
Hypotonia | Yes | Yes | Yes |
Face dysmorphism | Yes | Yes | No |
Other physical features | Webbed neck | pectus excavatum deformity | joint hypermobility |
DD | global developmental delay | global developmental delay | Motor delay |
ID | Yes | Yes | No |
ASD | Yes | not evaluated | No |
Other behavioral disorders | anxiety and self-injurious behavior | self-injurious and aggressive behavior | regression of motor skills |
Seizure | No | Yes | No |
EEG | not evaluated | abnormal | not evaluated |
MRI of brain | unremarkable | abnormal | not evaluated |
Family history | negative | negative | similar symptom in mother and maternal grand mother |
