Why does MECP2 mutation cause Rett syndrome?
In 1999, NICHD-supported scientists discovered that most classic Rett syndrome cases are caused by a mutation within the Methylcytosine-binding protein 2 (MECP2) gene. The MECP2 gene is located on the X chromosome. Between 90% and 95% of girls with Rett syndrome have a mutation in the MECP2 gene.
What kind of mutation causes Rett syndrome?
Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development.
What is MECP2 Rett syndrome?
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.
What type of mutation is MECP2?
Mutations in the MECP2 gene have been found to cause PPM-X syndrome. This disorder is characterized by mild to severe intellectual disability, bipolar disorder, and a pattern of movement abnormalities known as parkinsonism.
What chromosome is MECP2?
The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 (“Xq28”), from base pair 152,808,110 to base pair 152,878,611. 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 the cause of duplication?
Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes. The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes.
What are the signs of Rett syndrome?
Rett syndrome signs and symptoms include: Slowed growth. Brain growth slows after birth. Loss of normal movement and coordination. The first signs often include reduced hand control and a decreasing ability to crawl or walk normally. Loss of communication abilities.
What is the prognosis for Rett syndrome?
Prognosis for Rett’s syndrome: In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. However, the risk of death is increased. Sudden, unexplained death possibly from brainstem dysfunction with respiratory arrest often occurs.
What causes Rett syndrome?
Most cases of Rett syndrome are caused by a genetic mutation that affects a gene called MECP2 present on the X chromosome.
What are the characteristics of Rett syndrome?
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral features, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping.