Table 1 Genomic and clinical features of patients with MEF2C duplications compared to the present case
Genetic features | Clinical features | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Size (Mb) | Start | End | Inheritance | Ultrasound findings | Neonatal feeding | Microcephaly | Global developmental delay | Locomotor delay | Speech delay | Autistic trait | Eye | Facial features | MRI | Other | |
Present case | No CNV (balanced translocation) | de novo | – | – | – | + | + | + | – | – | spread eyebrows protruding ears with a fairly simple helix | – | |||
Le Muer et al. (2010) [18] | 4.5 | 86,142,512 | 90,712,814 | de novo | NA | NA | + | + | + | + | – | NA | – | ||
Novara F. et al. (2013) [17], patient 1 | 5.5 | 85,598,295 | 91,182,469 | de novo | – | poor sucking | + | + | + | + | – | hypermetropia | eye asymmetry metopic prominence occipital asymmetry | asymetric enlargement of lateral ventricles | |
Novara F. et al. (2013) [17], patient 2 | 5.2 | 87,356,360 | 92,591,506 | de novo | IUGR | poor sucking | + | + | + | – | – | – | wide and flat nasal root smooth filtrum microretrognathia clinodactyly of the 4th and 1st toes | – | persistant aseptic fever |
Cesaretti C. et al. (2016) [19] | 4.6 | 86,129,664 | 90,762,803 | de novo | Tw1: mild ventriculomegaly, short CC Tw2: heart bi-ventricular hypertrophy, short CC | NA | NA | NA | NA | NA | NA | NA | NA | NA | |