(Abidemi Adegbola et al)

  • 2015
  • Dr Adegbola and colleagues took what once was defined as a cardiac dominant disorder and reframed it to a neurodevelopmental disorder with occasional present cardiac defects
  • Using newer strategies for genetic diagnosis, researchers were able to summarize 8 new patient reports with intragenic deletions or duplications in MED13L gene. 
  • All cases did not report a heart defect. Instead, common facial features, speech, motor, intellectual delay with underlying low muscle tone and behavioral issues were described.
  • Some comparison to previous publications of patients by Drs Asadollahi and Dr Van Haelst were also mentioned
  • Symptoms were also compared in general to the other kinase complex mediator genes, MED12, MED12L, and MED13. All which share similar structure and symptoms.