X-chromosomale syndromale mentale Retardierung Lubs-Typ

Collins AL et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Meins M et al. (2005) Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

Van Esch H et al. (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

del Gaudio D et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

Carvalho CM et al. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

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Lubs H et al. (1999) XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

Friez MJ et al. (2006) Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Lugtenberg D et al. (2009) Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Ramocki MB et al. (2009) Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB et al. (2010) The MECP2 duplication syndrome.

Samaco RC et al. (2012) Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome.

Sztainberg Y et al. (2015) Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

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