MECP2 duplication syndrome

Common Name(s)

MECP2 duplication syndrome

MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by {10:Ramocki et al., 2010}).
 

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Condition Specific Organizations

Following organizations serve the condition "MECP2 duplication syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "MECP2 duplication syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies.
 

Author(s): Luca de Palma, Clementina Boniver, Matteo Cassina, Irene Toldo, Margherita Nosadini, Maurizio Clementi, Stefano Sartori

Journal: Epileptic Disord. 2012 Dec;14(4):414-7.

 

Duplication of MECP2 causes a recently described X-linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal ...

Last Updated: 31 Dec 2012

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The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
 

Author(s): Sarika U Peters, Rachel J Hundley, Amy K Wilson, Zachary Warren, Alison Vehorn, Claudia M B Carvalho, James R Lupski, Melissa B Ramocki

Journal: Autism Res. 2013 Feb;6(1):42-50.

 

Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related ...

Last Updated: 21 Feb 2013

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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
 

Author(s): Melissa B Ramocki, Sarika U Peters, Y Jane Tavyev, Feng Zhang, Claudia M B Carvalho, Christian P Schaaf, Ronald Richman, Ping Fang, Daniel G Glaze, James R Lupski, Huda Y Zoghbi

Journal: Ann. Neurol.. 2009 Dec;66(6):771-82.

 

There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes. This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females.

Last Updated: 4 Jan 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "MECP2 duplication syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The MECP2 duplication syndrome.
 

Author(s): Melissa B Ramocki, Y Jane Tavyev, Sarika U Peters

Journal: Am. J. Med. Genet. A. 2010 May;152A(5):1079-88.

 

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected ...

Last Updated: 28 Apr 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Physical Characteristics of Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 22 Nov 2013

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