Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation

Summary

(Asadollahi and Rauch)

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.