5q14.3 Microdeletion Syndrome and the MEF2C gene

When we discovered that Felix was missing a tiny chunk of his 5th chromosome, the information available from both genetics counselors and Dr. Google was nearly nonexistent.  Only 14 other instances of similar deletions had been reported, and the research was mostly limited to case studies.

Still, the 14 cases exhibited enough similarities to constitute a syndrome, and I am certain that as genetic testing becomes more prevalent, we will continue to learn more about this disorder and how best to help these children achieve their greatest potentials.

Until then, I have compiled a list of resources for other parents and caregivers regarding both the 5q14.3 Microdeletion Syndrome and the MEF2C gene, the loss of which appears to be the root of many of these individuals’ challenges.

If you have additional or updated resources to share, please contact me!  We are all in this together.


U.K.-based organization supporting rare chromosomal disorders
Download the latest 5q14.3 Deletion Syndrome pamphlet

OMIM: An Online Catalog of Human Genes and Genetic Disorders
(Last update) August 2013
--> Review article with links to various studies of 5q14.3 deletions.  Note that many of the deletions are quite large, but all of them involve deletions or mutations of the MEF2C gene.

European Journal of Human Genetics
May 27, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

WikiGenes Overview of MEF2C gene

Wikipedia Article for MEF2C gene

Orphanet Portal
(Last update) May 2010
--> As of May 2010, only 14 patients with 5q14.3 microdeletion syndrome had been reported.  Notes haploinsufficiency of MEF2C gene.

5q14.3 Facebook Group