MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation.

What is MECP2 duplication syndrome? MECP2 duplication syndrome is a rare neurodevelopmental condition caused by an extra copy (duplication) of the MECP2 gene. The disorder can cause a wide range of symptoms with varying severity.

The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.

Mar 22, 2017 · MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity, a condition characterized by ...

Oct 3, 2001 · The diagnosis of a MECP2 disorder is established by molecular genetic testing in a female proband with suggestive findings and a heterozygous MECP2 pathogenic variant, and in a male proband with suggestive findings and a hemizygous MECP2 pathogenic variant.

Jan 18, 2008 · MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent ...

MECP2 Duplication Syndrome is a rare neurogenetic disorder. It is usually found in males, although cases have been found in females. The syndrome is caused by a duplication of the MECP2 gene on the X chromosome and is usually inherited.

Mar 30, 2025 · MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations. Among its related pathways are Transcriptional Regulation by MECP2 and Gene expression (Transcription).

Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development.

Methyl CpG binding protein 2 (MeCP2) was first identified as a nuclear protein with a transcriptional repressor role that recognizes DNA methylation marks. MeCP2 has a well-established function in neurodevelopment, as evidenced by the severe ...