TY - CHAP M1 - Book, Section TI - Chapter 575. Rett Syndrome (Mecp2-Related Disorders) A1 - Mellado, Cecilia A1 - Sahin, Mustafa A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder and affects mainly females. The prevalence is 1 in 10,000 girls by the age of 12,1 making it one of the most common genetic causes of severe cognitive impairment in girls. RTT is caused by mutations in the MECP2 gene located at Xq28. MECP2 encodes a nuclear protein (MeCP2) that binds methylated DNA. The function of MeCP2 protein has not been fully elucidated; it is thought to mediate transcriptional silencing and epigenetic regulation of genes in regions of methylated DNA through its association with 5-methylcytosine–rich heterochromatin and may play a role in modulation of RNA splicing as well.2 There are different levels of expression depending on the tissue and developmental stage. Mutations in MECP2 can result in a similar constellation of neuropsychiatric abnormalities with either gain or loss of protein function. For example, MECP2 duplications have been reported in males with severe cognitive impairment. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=7059251 ER -