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Updated: May 28, 2026
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental
Stavroula Psoni1, Christalena Sofocleous, Joanne Traeger-Synodinos
1Department of Medical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
Insights
Mutations in the MECP2 gene are common in Rett syndrome (RTT) and related intellectual disabilities. Analyzing MECP2 offers a diagnostic tool for these neurodevelopmental disorders.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Mutations in the methyl-CpG-binding protein-2 (MECP2) gene cause Rett syndrome (RTT), a neurodevelopmental disorder.
- MECP2 mutations are also linked to various intellectual disability (MR) phenotypes, including X-linked Mental Retardation (XLMR), Fragile-X-like Syndrome (FXS), and Angelman-like (AS) syndromes.
- RTT primarily affects females and is characterized by developmental regression and microcephaly.
Purpose of the Study:
- To determine the incidence and spectrum of MECP2 gene mutations in children with RTT and variant MR.
- To investigate correlations between MECP2 mutations and clinical phenotypes in affected individuals.
Main Methods:
- Exons 3-4 of the MECP2 gene were analyzed in 281 patients with MR (144 males, 137 females).
- Patients were categorized into RTT, AS-like MR, and FXS-like MR groups.
- Statistical analysis was performed to correlate MECP2 mutation status with clinical features and disease categories.
Main Results:
- MECP2 mutations were found in approximately 70% of classic RTT cases and 21% of variant RTT cases.
- Approximately 2.1% of patients with non-specific MR carried MECP2 mutations.
- MECP2-positive females exhibited more pronounced issues with ambulation, muscle tone, tremor, ataxia, respiratory function, head growth, hand use, and stereotypies compared to MECP2-negative individuals.
Conclusions:
- MECP2 gene analysis serves as a valuable diagnostic tool for Rett syndrome.
- The study suggests MECP2 analysis can aid in the research and diagnosis of non-specific intellectual disabilities.
Background:
Mutations in the MECP2 gene (methyl-CpG-binding protein-2) are responsible for 60-95% of cases of Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder affecting mostly girls. Classic RTT is characterized by normal early development followed by psychomotor regression and onset of microcephaly, although variant forms are also observed. MECP2 has also been implicated in variable mental retardation (MR) phenotypes, including X-linked Mental Retardation (XLMR), Fragile-X-like Syndrome (FXS) and Angelman-like (AS) phenotypes.
Aim:
The aim of the study was: (a) to evaluate the incidence and spectrum of MECP2 mutations in children with RTT and variant MR; (b) to evaluate phenotype-genotype correlations.
Methods:
Exons 3-4 were analyzed for mutations in 281 MR patients (aged 13 months-27 years old, 144 males-137 females) consisting of 88 patients referred for RTT and 193 patients referred for AS-like and FXS-like types of MR. Statistical analysis included correlation between classic MECP2-positive and MECP2-negative and variant RTT patients, and frequency of MECP2 mutations in the various categories.
Results:
Mutations were detected in ≈ 70% of classic and ≈ 21% of variant RTT, respectively. Amongst MR cases, 2.1% carried MECP2 mutations. MECP2-positive females had more problems in ambulation, muscle tone, tremor and ataxia, respiratory disturbances, head growth, hand use and stereotypies. Classic RTT-positive versus negative had significant respiratory and sitting problems and versus variant RTT-positive females ambulatory, hand and stereotypies problems.
Conclusion:
The analysis of the MECP2 gene could provide a diagnostic tool for RTT and non-specific MR research.
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