Table 1.
Genomic data and key features of movement disorder and epilepsy for 15 subjects with MEF2C deletion and one subject (LR11-310) with frameshift mutation in MEF2C
| Subject | Age/Sex | Genomic event/size (Mb) | Genomic coordinates chr5 (Hg18) | Abnormal movements | Epilepsy type/age onset |
|---|---|---|---|---|---|
| IS09-024 | 13 years/M | Del/3.6 | 85855118-89474751 | Dystonia, stereotypies (hand flapping), nonambulatory | ISS/6 months |
| LR11-305 | 11 months/F | Del/5.11 | 85684257-90798560 | Dystonia | Myoclonic/11 months |
| LR11-306 | 5 years, 3 months/M | Del/1.0 | 88018766-89063989 | Stereotypies (hand flapping, chin rubbing), nonambulatory | Type unknown/onset after 1 year |
| LR11-307 | 13 years/F | Del/1.38 | 87905325-89289023 | Stereotypies (hand-flapping, rocking) abnormal gait with pes planus and valgus deformity | Myoclonic at 4 months/ISS by 9 months |
| LR11-308 | 46 years/M | Del/3.02 | 87591751-90619421 | Spasticity, nonambulatory | No epilepsy |
| LR11-309 | 17 months/F | Del/0.32 | 87905325-88220403 | Hyperkinesis, bruxism, does not roll or lift head | Myoclonic and generalized/13 months |
| LR11-310 | 22 months/F | Frameshift mutation | c833delT | Stereotypies (hand-wringing), began walking at 22 months | Myoclonic and atonic/18 months |
| LR11-312 | 5 years, 5 months/F | Del/1.95 | 87566009-89505509 | Hyperkinesis, stereotypies (rocking, side-to-side head movements) | Myoclonic and ISS/3 months |
| LR11-325 | 6 months/M | Del/6.0 | 87719139-93736389 | Hyperkinesis | ISS/4 months |
| LR11-387 | 6 years/M | Del/11.6 | 81657245-93240731 | Hyperkinesis, dystonia, can take steps with gait trainer | No epilepsy, febrile seizures |
| LR11-388 | 5 years, 6 months/F | Del/5.4 | 88185348-93546896 | Hyperkinesis, stereotypies (hand flapping, head shaking) | Myoclonic/2 years |
| LR12-013 | 7 years/M | Del/0.41 | 88177038-88592311 | Hyperkinesis, stereotypies (arm flapping, bruxism) | No epilepsy, febrile seizures |
| LR12-021 | 30 months/M | Del/0.05 | 88051970-88104535 | Repetitive back arching, stereotypies (hand batting, head shaking, bruxism) | No epilepsy |
| LR12-022 | 7 years/F | Del/0.30 | 88167504-88472051 | Hand tremor, stereotypies (hand flapping, waving hands in front of face, bruxism) | Single generalized seizure, no epilepsy |
| LR12-031 | 6 years/M | Del/5.2 | 84520000-89800000 | Hyperkinesis, back arching, stereotypies (waving hands in front of eyes) | Myoclonic/6 months |
| LR12-275 | 21 months/M | Del/2.0 | 86972414-88928741 | Hyperkinesis, stereotypies (head shaking, leg kicking) | No epilepsy |
M male, F female, Del deletion, ISS infantile spasms