MECP2 mutations in Serbian Rett syndrome patients

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Molecular Biology

Background:

• Rett syndrome is a severe X-linked dominant neurodevelopmental disorder.
• Mutations in the MECP2 gene are strongly associated with Rett syndrome.
• Understanding MECP2 mutations is crucial for diagnosis and treatment.

Purpose of the Study:

• To investigate the spectrum and frequency of MECP2 mutations in Serbian Rett syndrome patients.
• To identify novel MECP2 mutations.
• To explore genotype-phenotype correlations in this population.

Main Methods:

• Screening of the MECP2 coding region using single-strand conformation polymorphism and sequencing.
• Development and application of a novel quantitative PCR method for detecting gene dosage alterations.
• Analysis of 24 Serbian Rett syndrome patients and 41 family members.

Main Results:

• MECP2 mutations were identified in 79% of patients (19 out of 24).
• Five novel mutations (one nonsense, one duplication, three deletions) were discovered.
• Fourteen known disease-causing mutations and one polymorphism were also detected.

Conclusions:

• This study provides the first genetic analysis of Rett syndrome in Serbian patients.
• It describes the MECP2 mutational and phenotypic spectrum within this population.
• Findings contribute to a better understanding of genotype-phenotype correlations in Rett syndrome.