Figure 1.
Clinical findings in the present family and individuals reported in the literature with MYCBP2 pathogenic variants_
| Reference | our study | Bertoli-Avella et al., 2021 | AlAbdi et al., 2023 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Mother | Son 1 | Son 2 | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | Case 10 | Case 11 |
| Variant NM_015057.5 | c.7311del, p.(L2438Wfs*3) | c.7311del, p.(L2438Wfs*3) | c.7311del, p.(L2438Wfs*3) | c.2940-2delA | c.12095A>G; p.(Y4032C) | c.11915A>C; p.(H3972P) | c.8005C>T; p.(R2669*) | c.9896T>G; p.(V3299G) | c.11840A>T; p.(D3947V) | c.11843T>A; p.(L3948Q) | c.11888C>T; p.(T3963I) | c.13647+1 G>C | c.13669C>T; p.(R4557C) | c.13406C>A; p.(T4469K) |
| De novo mutation | unknown | no | no | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes |
| Sex | female | male | male | unknown | unknown | unknown | male | male | male | male | male | female | male | male |
| Age at genetic test (years) | 28 | 3 | 9 months | unknown | unknown | unknown | 12 | 20 | 16 | 3 | 6 | 4 | 6 | 2.5 |
| Intelectual dissability | yes/moderate | yes/moderate | yes/ | yes | yes | yes | yes/severe | no | yes | not tested | yes | no | yes/moderate | not tested |
| Epilepsy/Seizures | yes | no | NA | no | no | yes | yes | no | no | abnormal | no | no | yes | no |
| Developmental delay | yes | yes | Yes | yes | yes | yes | yes | yes | yes | yes | yes | no | yes | yes |
| Motor delay | N/A | yes | N/A | yes | N/A | N/A | no | no | yes | yes | yes | yes | yes | yes |
| Speech | difficult to understand | delayed, non-verbal | N/A | N/A | N/A | N/A | non-verbal | yes | difficult to understand | delay | yes | no | mostly non-verbal | mostly non-verbal |
| Corpus callosum defect | N/A | N/A | N/A | N/A | yes | N/A | yes | N/A | yes | yes | yes | N/A | no | N/A |
| Facial dysmorphism | yes | yes | yes | yes | N/A | N/A | yes | yes | yes | yes | yes | yes | no | no |