Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Rett syndrome is a neurodevelopmental disorder typically presenting after normal early development.
• Mutations in the methyl CpG-binding protein 2 (MECP2) gene are a common cause of Rett syndrome.
• Understanding the link between MECP2 mutations and clinical presentation is crucial for diagnosis and management.

Purpose of the Study:

• To investigate the relationship between clinical diagnosis of Rett syndrome and MECP2 gene mutations in Iranian patients.
• To identify the prevalence of MECP2 mutations in a cohort of Iranian children with Rett syndrome.
• To correlate specific MECP2 mutations with observed clinical manifestations.

Main Methods:

• Twenty-three patients meeting classic Rett syndrome criteria were enrolled from Mofid Hospital, Tehran.
• Clinical severity of symptoms was assessed for all participants.
• Genomic DNA was extracted from peripheral blood, and MECP2 gene mutations were analyzed using DNA sequencing.

Main Results:

• MECP2 gene mutations were identified in 11 (47.8%) of the 23 patients.
• No mutations were found in the remaining 12 (52.2%) patients.
• The most frequent mutation, p.v288, was associated with partially or uncontrolled seizures, indicating a genotype-phenotype correlation.

Conclusions:

• This study provides the first comprehensive analysis of Rett syndrome in Iran, linking clinical features with genetic findings.
• The findings confirm the significant role of MECP2 gene mutations in the etiology of Rett syndrome within the Iranian population.
• Genotype-phenotype correlations, such as the association between p.v288 and seizures, offer valuable insights for clinical practice.