A new research review article is being published in the American Journal of Clinical Genetics that reviews information to date on MECP2 Duplication Syndrome and adds a few new pieces to the puzzle. “The MECP2 Duplication Syndrome” by Melissa Ramocki, Jane Tavyev,and Sarika Peters form the Department of Pediatrics, Baylor College of Medicine is the most complete summary to date of information about the syndrome, pulling together information from previous published articles and added some new information.
The article will be available in print form soon but has been already published on-line. Some parts of he article are technical and intended for medical professionals but most of it is easily understood by most readers. For families that need to help educate your pediatricians or other health care providers about MECP2 Duplication Syndrome, I strongly recommend getting and passing along a copy of this article. Unfortunately, this is copyrighted information so it may be hard for families to access a copy without paying a high price for the article. However, many large libraries, such as those at Universities, especially those with med schools will have access.
Melissa B. Ramocki, Y. Jane Tavyev, & Sarika U. Peters. (2010). The MECP2 duplication syndrome. American Journal of Medical Genetics Part A,
Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas
Abstract: In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to profound mental retardation, autism or autistic features, poor speech development, recurrent infections, epilepsy, progressive spasticity, and, in some cases, developmental regression. Most of the reported cases are inherited, however, de novo cases have been documented. While carrier females have been reported to be unaffected, more recent research demonstrates that despite normal intelligence, female carriers display a range of neuropsychiatric phenotypes that pre-date the birth of an affected son. Given what we know of the syndrome to date, we propose that genetic testing is warranted in cases of males with infantile hypotonia and in cases of boys with mental retardation and autistic features with or without recurrent infections, progressive spasticity, epilepsy, or developmental regression. We discuss recommendations for clinical management and surveillance as well as the need for further clinical, genotype-phenotype, and molecular studies to assist the patients and their families who are affected by this syndrome. © 2010 Wiley-Liss, Inc.