What causes MECP2 duplication syndrome ?
What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not appear to affect the severity of the condition. People with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene encodes a protein that is important for normal brain functioning. Although it plays many roles, one of its most important functions is to regulate other genes in the brain by switching them on and off. A duplication of the MECP2 gene leads to the production of excess protein, which is unable to properly regulate the expression of other genes. This results in irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.