Key Publications

Review

MeCP2 dysfunction in Rett syndrome and related disorders.
Moretti P, Zoghbi HY.
Curr Opin Genet Dev. 2006 Jun;16(3):276-81.

MECP2 Duplication Syndrome

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. 2007 Dec 28.

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.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.
Pediatrics. 2006 Dec;118(6):e1687-95.

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.

Autism/schizophrenia

Methyl-CpG-binding protein (MECP2) polymorphisms and vulnerability to autism.
Loat C, Curran S, Lewis C, Abrahams B, Duvall J, Geschwind D, Bolton P, Craig I.
Genes Brain Behav. 2008 Jun 2.

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.
Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.
Nagarajan RP, Hogart AR, Gwye Y, Martin MR, LaSalle JM.
Epigenetics. 2006 Oct-Dec;1(4):e1-11.

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
Coutinho AM, Oliveira G, Katz C, Feng J, Yan J, Yang C, Marques C, Ataíde A, Miguel TS, Borges L, Almeida J, Correia C, Currais A, Bento C, Mota-Vieira L, Temudo T, Santos M, Maciel P, Sommer SS, Vicente AM.
Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):475-83.

MECP2 mutation in a boy with language disorder and schizophrenia.
Cohen D, Lazar G, Couvert P, Desportes V, Lippe D, Mazet P, Héron D.
Am J Psychiatry. 2002 Jan;159(1):148-149

Miscellaneous

Very mild cases of Rett syndrome with skewed X inactivation.
Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J.
J Med Genet. 2006 Oct;43(10):814-6. Epub 2006 May 11.

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL.
Hum Mol Genet. 2008 Jun 15;17(12):1718-27

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.
Bredford Kerr, Matías Alvarez-Saavedra, Mauricio A. Sáez, Alexandra Saona,, Juan I. Young
Hum Mol Genet. 2008 Jun 15; 17(12):1707-1717