MECP2 duplication


El Chehadeh S, et al. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Am J Med Genet A. 2016;170A(1):116-129. PMID:26420639.

Nageshappa S, et al. Altered neuronal network and rescue in a human MECP2 duplication model. Mol Psychiatry. 2016;21(2):178-188. PMID:26347316.

Sztainberg Y, et al. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. 2015;528(7580):123-126. PMID:26605526.

Lombardi LM, et al. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015;125(8):2914-2923. PMID:26237041.

Bauer M, et al. Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol. 2015;35(2):168-181. PMID:25721700.

Van Esch H. MECP2 Duplication Syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Initial Posting: 2008 Jan 18 [updated 2015 2014 Oct 9].Available from

Van Esch H. MECP2 Duplication Syndrome. Mol Syndromol. 2012;2(3-5):128-136. PMID:22679399.

Ramocki MB, et al. The MECP2 duplication syndrome. Am J Med Genet A. 2010;152A(5):1079-1088. PMID:20425814.

Bauters M, et al. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008;18(6):847-858. PMID:18385275.

del Gaudio D, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006;8(12):784-792. PMID:17172942.

Van Esch H, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005;77(3):442-453. PMID:16080119.