Summary
(Asadollahi and Rauch)
- 2013
- One of the foundational publications further delineating MED13L deletions and triplications causing an identifiable neurodevelopmental disorder vs a primary cardiac disorders.
- Three cases described of MED13L syndrome with low tone, common facial features, and intellectual delay in addition to heart abnormalities.
- One of the first publications to describe MED13L as being haploinsufficient, implying that two fully functional copies of MED13L gene must be present and that deletions likely lead to one of the two MED13L gene no longer functioning.
- Description of MED13L presence in multiple tissue types throughout life – brain (cerebellum), heart, skeletal muscle, kidneys, and blood leukocytes
- Hypothesis that MED13L, similar to MED13, is involved in neural crest differentiation, which is involved in the creation of the system structures mentioned above
