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Updated: May 13, 2026
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An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Brief report: regression timing and associated features in MECP2 duplication syndrome
S U Peters1, R J Hundley, A K Wilson
1Departments of Pediatrics and Psychiatry, Vanderbilt University, Nashville, TN, USA, sarika.u.peters@vanderbilt.edu.
Journal of Autism and Developmental Disorders
|March 5, 2013
Summary
Developmental regression, including language and other skills, affects over half of boys with MECP2 duplication syndrome. Regression often coincides with seizure onset or autism diagnosis, but not duplication size.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Pediatric neurology
Background:
- MECP2 duplication syndrome is a rare genetic disorder.
- Developmental regression is a concerning feature in affected individuals.
Purpose of the Study:
- To determine the frequency and timing of developmental regression in MECP2 duplication syndrome.
- To identify associated features of regression, such as seizure onset and autism diagnosis.
- To investigate the relationship between duplication size and regression.
Main Methods:
- Assessment of 17 boys with MECP2 duplication syndrome.
- Comprehensive psychological evaluations.
- Parental reporting of developmental regression.
Main Results:
- Developmental regression occurred in 8 of 17 boys for language skills and 7 of 17 for other skills.
- Regression in other skills was associated with seizure onset and prior autism diagnosis in most cases.
- Regression was not correlated with the size of the MECP2 gene duplication.
Conclusions:
- Developmental regression is common in MECP2 duplication syndrome.
- Seizure onset and autism diagnosis are linked to regression in some skill areas.
- Further research is needed to understand the mechanisms underlying regression in this syndrome.
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