Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

X-chromosomale syndromale mentale Retardierung Lubs-Typ

Die X-chromosomale syndromale mentale Retardierung vom Typ Lubs ist eine allelische Variante der durch Mutationen im MECP2-Gen ausgelösten mentalen Retardierung.

Gliederung

X-chromosomale syndromale mentale Retardierung 13
MECP2
X-chromosomale syndromale mentale Retardierung Lubs-Typ
MECP2

Referenzen:

1.

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

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2.

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.

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3.

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.

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4.

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

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5.

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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6.

Belligni EF et. al. (2010) MECP2 duplication in a patient with congenital central hypoventilation.

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7.

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

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8.

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

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9.

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.

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10.

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

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11.

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

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12.

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

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13.

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

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