PMC

Partial scheme of the gene content of the 15q14.3q15 microdeletion region with the first smallest region of overlap (SRO1) defined by 6 cases reported by and , and the distinct SRO2 delineated by through 2 novel cases.

Clinical photographs of a previously unpublished patient with 15q14.3q15 microdeletion amongst others including the MEF2C and RASA1 genes, at the age of 14 months. Note the typical facial features with high, broad and bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small nose with anteverted nares, small mouth with downturned corners, mild retrognathia, large ears with up-lifted, prominent earlobes, as well as multiple round CMs of variable size.

Genomic and protein structure of MEF2C and the respective location of all point mutations published so far. a Schematic representation of the MEF2C gene. The 3 annotated transcription start sites are shown as dashed arrows, the non-coding exons for the untranslated region are depicted as white boxes, and the start codon as a black arrow. The universal coding exons are shown as grey boxes, black-marked regions are coding for the MADS domain, dark grey regions for the MEF2 domain, and sequences coding for alternatively spliced elements α1, α2, β and γ are represented by differently dashed boxes. b Schematic representation of the protein structure of MEF2C and its alternatively spliced transcripts. MADS and MEF2 domains are required for DNA binding and dimerization, while the transactivation domains are required for transcriptional activation via protein-protein interactions. Alternative splicing occurs in the region immediately adjacent to the MEF2 domain (α1, α2; unclear function), in the transactivation region (β; inclusion is brain specific) [; ; ] and within the last coding exons (γ; suggested transcriptional repression domain) [].