Summary
(Tomas Smol and Jamal Ghoumid)
- 2018
- Summary of 36 patients with MED13L neurodevelopmental disorder from across the world
- New variants identified included de novo missense variants, protein truncating variants (frameshift and nonsense), and intragenic deletions
- A gene hot spot where missense variants appeared were on exons 15-17 and exons 25-31.
- Symptoms of individuals with these variants had epilepsy and more symptoms compared to other variants
- Few heart defects were reported
- Foundational paper questioning if MED13L variants solely cause haploinsufficiency syndrome and clinical symptom differences could be due variant type, location, and interaction/function
