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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR.

Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26.


Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.

Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107. Epub 2008 Apr 2.


Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.

Eur J Med Genet. 2016 Jun;59(6-7):347-53. doi: 10.1016/j.ejmg.2016.05.004. Epub 2016 May 11.


MECP2 duplications in six patients with complex sex chromosome rearrangements.

Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.

Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Epub 2010 Dec 1. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1110.


Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.

Am J Med Genet A. 2014 Apr;164A(4):924-33. doi: 10.1002/ajmg.a.36373. Epub 2014 Jan 29.


Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.


Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.


De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.

Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.


Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.

Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198.


Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.

Genet Med. 2006 Dec;8(12):784-92.


Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.

Am J Hum Genet. 2005 Sep;77(3):442-53. Epub 2005 Jul 29.


Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.

Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.


[Advance in research on MECP2 [corrected] duplication syndrome].

Zhang Q, Bao X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):426-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.028. Review. Chinese. Erratum in: Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):677.


Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.


Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.

Am J Hum Genet. 2005 Dec;77(6):966-87. Epub 2005 Oct 19.


Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.


Distal Xq duplication and functional Xq disomy.

Sanlaville D, Schluth-Bolard C, Turleau C.

Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Review.


A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.

BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71.


Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):799-806. doi: 10.1002/ajmg.b.30683.


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