Understanding the MED13L Syndrome
MED13L syndrome is a rare genetic disorder. It primarily affects cognitive development, language, and sometimes behavior. Each affected individual is unique. The prevalence is estimated between 1.5 and 2 per 100,000 births.
What are the signs of the syndrome?
- Intellectual disability, sometimes associated with autism spectrum disorders
- Global developmental delay
- Language and learning difficulties
- Visual problems
- Hearing impairments
- Epilepsy (in some cases)
- Orthopedic problems
Important: Every child is different. The syndrome can manifest in highly variable ways.
🧬A mutation in the MED13L gene
MED13L haploinsufficiency syndrome is linked to the defective expression of one copy of the MED13L gene, located on the long arm of chromosome 12 (12q24.21). This gene produces a protein essential for the expression of other genes in our cells. It is part of a group called the mediator complex.
It is a rare genetic disease but often not inherited.
Learn more about the genetics of the syndrome? Resources.
🧬Autosomal Dominant Inheritance
- We all have two copies of each gene.
- In MED13L syndrome, only one altered copy may be enough to cause effects.
- The mutation is often "de novo", meaning it appears randomly, without the parents being carriers.
Sometimes, one parent may be a carrier without knowing it, in their germ cells (this is called germline mosaicism).
🔬The Role of the Mediator Complex
This biochemical complex acts like a conductor in the cell. It helps genes express themselves correctly. Without it, certain functions essential for development can be disrupted.
💡The mediator complex is particularly important in brain and nervous system development.
📊What is the status of research?
- Approximately 300 families are currently connected worldwide.
- Dr. Jamal Ghoumid's teams at CHU Lille are conducting the most advanced research in Europe on this syndrome. Other studies are conducted by the Brain Institute, Paris (Dr. Laila El Khattabi and Bou Rouphael).
- Diagnosis is based on DNA sequencing.
- Many affected adults are not yet diagnosed.
Together, we move forward: Research progresses thanks to the families, associations, and researchers cooperating daily.
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