Overview of MECP2 Duplication Syndrome

Overview of MECP2 Duplication Syndrome

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By Ratan-NM, M. Pharm.Reviewed by Dr. Liji Thomas, MD

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• What causes MECP2 duplication syndrome?
• What are the signs and symptoms of MECP2 duplication syndrome?
• How is MECP2 duplication syndrome diagnosed?
• What are the treatment options for MECP2 duplication syndrome?

MECP2 Duplication Syndrome is a progressive neurological disorder due to a chromosomal anomaly. The chromosomal disorder was first reported in 2005 and involves duplication of the methyl CpG binding protein 2 (MECP2) gene on the chromosome X.

MECP2 duplication syndrome primarily affects males, but females who carry the duplication on one X chromosome may exhibit some signs of the disorder.