A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Rett syndrome (RTT) is a rare X-linked genetic disorder impacting neurological development, predominantly in females.
• Diagnosis typically involves clinical criteria and identifying mutations in the methyl-CpG-binding protein 2 (MECP2) gene, mainly in exons 3 and 4.
• While MECP2 mutations account for ~95% of RTT cases, mutations in CDKL5 and Netrin G1 can present with similar symptoms.

Observation:

• A 4-year-old female patient presented with clinical features consistent with a diagnosis of Rett syndrome.
• Genetic analysis was performed to investigate the underlying cause of her symptoms.

Findings:

• Sequence analysis revealed a de novo, heterozygous c.489G>A mutation in exon 4 of the MECP2 gene.
• This specific mutation was identified as the likely cause of the patient's Rett syndrome diagnosis.

Implications:

• This case highlights the importance of MECP2 gene sequencing in diagnosing Rett syndrome.
• Understanding genotype-phenotype correlations in RTT is crucial for accurate diagnosis and potential therapeutic strategies.
• Further research into MECP2 mutations contributes to the broader understanding of neurodevelopmental disorders.