The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)
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Article Category: Short communication
Publicado en línea: 30 abr 2021
Páginas: 32 - 36
DOI: https://doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003
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© 2020 Mateusz Dawidziuk et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Figure S1
Comparison of major clinical features and their frequency in patients with likely pathogenic variants in the MED13L gene and this study patient.
| Clinical feature | Number of patients | This study patient | |
|---|---|---|---|
| Clinical findings | ID or DD | 69/69 | +(severe ID and DD) |
| Speech delay | 68/69 | +(no speech) | |
| Hypotonia | 46/66 | +(axial hypotonia) | |
| Coordination problems | 20/60 | +(stereotypic movements, wide-based gait) | |
| Congenital heart defects | 12/64 | – | |
| Autistic features | 16/69 | – | |
| Abnormal brain MRI | 26/58 | +(lateral ventricles asymmetry, wider posterior part of the left ventricle) | |
| Seizures | 10/63 | – | |
| Behavioural problems | 16/51 | +(self-destructive behaviour – biting hands) | |
| Strabismus | 3/24 | +(convergent strabismus – esotropia) | |
| Dysmorphic features | Depressed/flat nasal bridge | 19/33 | +(flat nasal bridge) |
| Broad/prominent forehead | 16/21 | +(prominent frontal eminence) | |
| Bulbous nasal tip | 50/67 | + | |
| Upslanting palpebral fissures | 26/65 | +(slight epicanthic folds) | |
| Low seat ears | 17/33 | – | |
| Bitemporal narrowing | 8/33 | – | |
| Horizontal eyebrows | 7/33 | + | |
| Macrosomia | 14/33 | + | |
| Macroglossia | 9/33 | – |