MECP2 Duplication Syndrome (M2DS) is a rare genetic disorder caused by duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28). The syndrome primarily affects males.
Common symptoms of M2DS are
- Infantile hypotonia
- Delayed psychomotor development
- Severe intellectual disability
- Minimal or absent speech
- Gait abnormalities due to muscle spasticity-half of M2DS patients never learn to walk
- Recurrent respiratory infections
- Gastrointestinal issues
- Dysmorphic features such as brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge
Link to autism
Many sufferers of M2DS display signs of Autism.
Female sufferers of M2DS are rare due to skewed X-chromosome inactivation, but female carriers of the MECP2 duplication tend to show signs of Autism and other psychiatric symptoms.
Currently there is no cure for M2DS. Treatment is generally supportive and based on increasing quality of life.
50% of M2DS patients die before the age of 25 due to chronic infections.
Because of the physical and mental disabilities caused by the condition, M2DS patients require lifelong care and support.