6. Rett syndrome: Methyl-CpG binding protein 2 transformation and phenotypic-genotypic characteristics

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Asma Saeed, Muhammad Farhan Nasir and Tanveer Hussain


Methyl-CpG-binding protein 2 (MECP2) mutation has been coupled to Rett syndrome; X-linked neurological disorder, leading to steady slowing down of neurodevelopment that exclusively affects girls worldwide. As this gene is known for its specific localization and careful binding to methylated Cytosine residues in genomic DNA and is expected to intercede biological function of transcriptional oppression and chromatin concentration too. But a finest delivery of properly folded and tailored MECP2 protein is required for its part in directive gene transcription. The detailed research work done worldwide shows that MECP2 function is not only vital for normal brain development and neuronal pledge but is eventually requisite for establishment and upholding of normal neuronal occupation. The percentage of MECP2 mutation in classic Rett patients is up to 80% however this transformation spectrum ranges from severe to mild with congenital encephalopathy, mental retardation and various neurological side effects. Altered MECP2 shows relevance to phenotypic manifestation but the skewed X inactivation appears to influence its seriousness in a far more extensive sense. The patients with identical MECP2 mutation may show very different phenotypic features and strictness because of variation in x-inactivation prototype among individuals. This study is done to review the availability of diagnosis and treatment at molecular level. In this review the clinical spectrum and molecular findings in females with MECP2 dysfunctions are also reviewed with special reference to evaluate the sufficient available criteria for molecular diagnosis and treatment across the globe.

Keywords: Genotype; MECP2 mutation; Phenotype; Rett syndrome



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