MECP2 mutations in males.

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Rett syndrome (RS) is a severe X-linked neurological disorder primarily affecting females, caused by mutations in the methyl CpG-binding protein 2 (MECP2) gene.
• RS is a leading cause of profound intellectual disability in women, with a prevalence of approximately 1 in 10,000 female births.

Purpose of the Study:

• To review the nature of MECP2 mutations identified in male patients.
• To correlate these mutations with their associated neurological phenotypes in males.

Main Methods:

• Literature review of studies identifying MECP2 mutations in male patients.
• Analysis of reported phenotypes associated with these mutations.

Main Results:

• MECP2 mutations, initially thought lethal in males, are identified in 1.3%–1.7% of mentally retarded males.
• These mutations are associated with a wide range of neurological disorders in males, from mild intellectual disability to severe neonatal encephalopathy.

Conclusions:

• MECP2 mutations are a significant cause of neurological disorders in males, presenting a broader clinical spectrum than previously recognized.
• Further research is needed to fully understand the genotype-phenotype correlations of MECP2 mutations in males.