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Article first published online: 2 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1079–1088, May 2010
How to Cite
Ramocki, M. B., Tavyev, Y. J. and Peters, S. U. (2010), The MECP2 duplication syndrome. Am. J. Med. Genet., 152A: 1079–1088. doi: 10.1002/ajmg.a.33184
How to Cite this Article: Ramocki MB, Tavyev YJ, Peters SU. 2010. The MECP2 duplication syndrome. Am J Med Genet Part A 152A:1079–1088.
- Issue published online: 22 APR 2010
- Article first published online: 2 APR 2010
- Manuscript Accepted: 3 OCT 2009
- Manuscript Received: 30 JUL 2009
- NIH/NINDS. Grant Number: 5K08NS062711-02
- NIH General Clinical Research Center. Grant Number: RR000188
- mental retardation;
- recurrent infections;
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.