MECP2 duplication syndrome
Rare X-linked disorder from MECP2 overexpression causing severe disability.
MECP2 duplication syndrome (M2DS) is a rare X-linked genetic disorder caused by overexpression of the MECP2 gene. It is characterized by severe intellectual disability, impaired motor function, and a range of systemic symptoms, primarily affecting young males.
Quick Facts
- Field
- Medical genetics
Facts from the source article.
Lore & Background
MECP2 duplication syndrome was first described in 2005 by Van Esch et al. It is one of several types of X-linked intellectual disability, caused by a duplication of the MECP2 gene on the X chromosome at Xq28. The MeCP2 protein plays a pivotal role in regulating brain function, and increased levels result in abnormal neural function and impaired immune system. Females affected by this condition often do not show symptoms.
Reader's Guide
MECP2 duplication syndrome represents approximately 1% of X-linked male mental disability cases. Advances in genetic testing, particularly array comparative genomic hybridization, have led to increased diagnosis. In a 2015 Nature article, researchers at Baylor College of Medicine led by Huda Y. Zoghbi reversed the syndrome in adult symptomatic mice using antisense therapy, reducing MECP2 protein to normal levels and resolving hypoactivity, anxiety, abnormal social behavior, seizure activity, and abnormal EEG discharges. This work demonstrated that normalizing MECP2 levels also normalized expression of other genes controlled by the protein, offering a potential therapeutic avenue. The syndrome's impact is severe, with half of affected individuals not surviving beyond age 25, primarily due to impaired immune function.
More in Disorders causing seizures 1-24
Spotted an error? Know more?
Reader corrections go straight into our review queue. Suggest an edit · How this site is sourced