Table 1.
Comparison of the biological roles and associated phenotypes of MED13 and MED13L
| MED13 | MED13L | References | |
|---|---|---|---|
| Human chromosome | 17q23.2 | 12q24.21 | 37 |
| Biological role | Growth and development/Myogenesis | Neural crest induction/Neurogenesis | 19-21, 38-40 |
| Zygotic genome activation/Mitosis/Mitochondrial fission/PCD | Cell proliferation | 12, 17, 18, 22, 41 | |
| Pathophysiological role | Target of miR-208a and miR-378/378* | — | 42, 43 |
| Cyanotic congenital heart disease (A-to-I RNA editing) | Congenital heart defect (TGA)/Coarctation of the aorta | 13, 25, 33 | |
| Neurodevelopmental disorder (DD/ID) | MED13L haploinsufficiency syndrome | 23, 26, 29-32, 34, 40 | |
| ASD/ADHD | (broaden the clinical features) |
PCD: Programmed cell death; DD: Developmental delay; ID: Intellectual disability; A-to-I RNA editing: adenosine-to-inosine RNA editing; ASD: Autism spectrum disorder; ADHD: Attention deficit hyperactivity disorder; TGA: Transposition of the great arteries.