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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 7 free, full-text research articles on human participants. First 3 results:

MECP2 duplication syndrome in a Chinese family.
 

Author(s): Qingping Zhang, Ying Zhao, Yanling Yang, Xinhua Bao

Journal:

 

Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the ...

Last Updated: 17 Dec 2015

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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
 

Author(s): Laura Dean Heckman, Maria H Chahrour, Huda Y Zoghbi

Journal:

 

Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological disorder, MECP2 duplication ...

Last Updated: 24 Sep 2014

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Deep brain stimulation for the management of seizures in MECP2 duplication syndrome.
 

Author(s): Fabio A Nascimento, Hanna Faghfoury, Timo Krings, Anfal Ali, Jonathan D Fridhandler, Andres Lozano, Richard Wennberg, Danielle M Andrade

Journal: Seizure. 2014 May;23(5):405-7.

 

Last Updated: 30 Apr 2014

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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 2 free, full-text review articles on human participants. First 3 results:

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
 

Author(s): Aglaia Vignoli, Renato Borgatti, Angela Peron, Claudio Zucca, Lucia Ballarati, Clara Bonaglia, Melissa Bellini, Lucio Giordano, Romina Romaniello, Maria Francesca Bedeschi, Roberta Epifanio, Silvia Russo, Rossella Caselli, Daniela Giardino, Francesca Darra, Francesca La Briola, Giuseppe Banderali, Maria Paola Canevini

Journal: Epilepsia. 2012 Jul;53(7):1146-55.

 

Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive spasticity and/or ataxia, recurrent severe respiratory infections, gastrointestinal problems, ...

Last Updated: 4 Jul 2012

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Rett Syndrome & Related Disorders
 

Status: Recruiting

Condition Summary: Rett Syndrome; MECP2 Duplication dIsorder; RTT-related Conditions

 

Last Updated: 13 Apr 2016

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Biobanking of Rett Syndrome and Related Disorders
 

Status: Recruiting

Condition Summary: Rett Syndrome; MECP2 Duplication; CDKL5; FOXG1 Disorders

 

Last Updated: 17 Mar 2016

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