(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