MEF2C (Myocyte Enhancer Factor 2C) haploinsufficiency syndrome is a group of clinical syndromes caused by mutations in the MEF2C gene or microdeletions on chromosome 5q14.3, leading to abnormalities in the MEF2C gene. Its pathogenesis is that after gene mutations or deletions, only 50% of the normal level of protein is produced, which is insufficient to maintain normal physiological functions of c
Conditions
Interventions
control group:None
Patients with mef2c haploinsufficiency (Haploinsufficiency of MEF2C gene (pathogenic variation/deletion of MEF2C gene)):None
Sponsors
Children's Hospital,Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Age
1 Years to No maximum
Inclusion criteria
Inclusion criteria: 1.Patients with MEF2C gene mutations;
Exclusion criteria
Exclusion criteria: 1.Combined with other known syndromic neurodevelopmental disorders (such as Rett, Angelman, Fragile X, etc.) or chromosomal abnormalities (>5 Mb deletion/duplication); 2.Received gene therapy, cell therapy, or immunomodulatory therapy; 3.Unable to obtain informed consent from legal guardian;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| MEF2C protein and mRNA expression level; | — |
Secondary
| Measure | Time frame |
|---|---|
| Neuronal differentiation efficiency;Neuronal electrophysiological activity; | — |
Countries
China
Contacts
Public ContactYue Zhang
Children's Hospital,Zhejiang University School of Medicine
Outcome results
None listed