36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysis

The MEF2 polypeptide C (MEF2C), a transcription factor, encodes for a protein that plays a key role in myogenesis, craniofacial development, and neurogenesis. In 2010, microarray studies identified a microdeletion of 5q14.3 region (critical region including the MEF2C gene) to be contributing to a phenotype including intellectual disability, epilepsy and other cerebral malformations. Both truncating single nucleotide variations and deletions of this gene demonstrate haploinsuffciency. Clinically, MEF2C-related disorders are characterized by severe intellectual disability with absent speech, autism, limited walking abilities, hypotonia, seizures, and a variety of minor brain anomalies as well as dysmorphic features.

Source: Cancer Genetics and Cytogenetics - May 17, 2018 Category: Genetics & Stem Cells Authors: Frank Bartel, Timothy Fee, Barbara DuPont Source Type: research