This website provides information on patients with mutations in the MEF2C gene, including clinical data, molecular data, management and research options.
Pathogenic variants (changes) in the MEF2C gene have been established as a cause for neurodevelopmental disorders.
The MEF2C haploinsufficiency causes an intellectual disability syndrome characterized by severe global developmental delay with absence of speech, limited ambulation, hypotonia, seizures and stereotypic movements. Phenotypic overlap with Rett’s and Angelman’s syndromes has been noted. Not all individuals with a pathogenic variant in the MEF2C gene have these features.
On top of that, there have been 5 patients reported with MEF2C duplications that present with milder cognitive impairment.
Sixty patients with a pathogenic variant in MEF2C have been reported in the literature so far. Therefore, more patient data is needed to examine the clinical presentation of patients with MEF2C pathogenic variants in more detail and to identify the consequences of these variants with a higher precision.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with variants in the MEF2C gene.
Sofia Douzgou, MD, PhD, FRCP, Manchester Centre for Genomic Medicine, Manchester, United Kingdom, firstname.lastname@example.org
Florence Riccardi, Junior doctor in Medical Genetics, Marseille Public University Hospital, Aix-Marseille University, Marseille, France, email@example.com