(Asadollahi and Rauch)

  • 2017
  • A review of 22 individuals with MED13L, including new 2 individuals, with a collation of common symptoms.
  • Common features are described as moderate to severe ID, common facial features, with low muscle tone and speech delay in all patients
  • Additionally, MRI findings showed myelination defects and abnormal corpus callosum as well as abnormal EEGs with or without seizures, coordination issues, autism/autistic like features, or congenital heart defects were present in about half of individuals
  • A recurrent missense variant p. Asp860Gly was shown to be pathogenic with a computational based prediction, showing that missense variants in the MED13L gene can cause disorders. 
  • Integration of MED13L mechanism for cell cycle management, including specific genes WntFGF, and Rb/E2F were highlighted. 
  • Summary of findings of a zebrafish model with improper branchial and pharyngeal arches were also included. These arches are responsible for facial and neck nervous, bone, and musculature.