Literature DB >> 22679399

MECP2 Duplication Syndrome.

H Van Esch1.   

Abstract

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome.

Entities:  

Year:  2011        PMID： 22679399      PMCID： PMC3366699          DOI： 10.1159/000329580

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  31 in total

1.  XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

Authors:  H Lubs; F Abidi; J A Bier; D Abuelo; L Ouzts; K Voeller; E Fennell; R E Stevenson; C E Schwartz; F Arena
Journal:  Am J Med Genet       Date:  1999-07-30

2.  MECP2 duplication in a patient with congenital central hypoventilation.

Authors:  Elga F Belligni; Rodger W Palmer; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

3.  Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Authors:  M Smyk; E Obersztyn; B Nowakowska; M Nawara; S W Cheung; T Mazurczak; P Stankiewicz; E Bocian
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2008-09-05       Impact factor: 3.568

4.  The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Authors:  E P Kirk; V Malaty-Brevaud; N Martini; C Lacoste; N Levy; K Maclean; L Davies; N Philip; C Badens
Journal:  Clin Genet       Date:  2008-11-01       Impact factor: 4.438

5.  De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Authors:  P Makrythanasis; I Moix; S Gimelli; J Fluss; K Aliferis; S E Antonarakis; M A Morris; F Béna; A Bottani
Journal:  Clin Genet       Date:  2010-01-05       Impact factor: 4.438

6.  Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Authors:  Michael J Friez; Julie R Jones; Katie Clarkson; Herbert Lubs; Dianne Abuelo; Jo-Ann Blaymore Bier; Shashidhar Pai; Richard Simensen; Charles Williams; Philip F Giampietro; Charles E Schwartz; Roger E Stevenson
Journal:  Pediatrics       Date:  2006-11-06       Impact factor: 7.124

7.  Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Authors:  Katherine L Lachlan; Morag N Collinson; Richard O C Sandford; Berendine van Zyl; Patricia A Jacobs; N Simon Thomas
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

8.  Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Authors:  Trine E Prescott; Olaug K Rødningen; Alf Bjørnstad; Asbjørg Stray-Pedersen
Journal:  Clin Dysmorphol       Date:  2009-04       Impact factor: 0.816

9.  Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Authors:  Ann L Collins; Jonathan M Levenson; Alexander P Vilaythong; Ronald Richman; Dawna L Armstrong; Jeffrey L Noebels; J David Sweatt; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2004-09-06       Impact factor: 6.150

10.  Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

Authors:  Annagiusi Gargiulo; Renata Auricchio; Maria Vittoria Barone; Gabriella Cotugno; William Reardon; Peter J Milla; Andrea Ballabio; Alfredo Ciccodicola; Alberto Auricchio
Journal:  Am J Hum Genet       Date:  2007-02-26       Impact factor: 11.025
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  48 in total

Review 1.  Epigenetics, autism spectrum, and neurodevelopmental disorders.

Authors:  Sampathkumar Rangasamy; Santosh R D'Mello; Vinodh Narayanan
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

2.  Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome.

Authors:  Sarika U Peters; Breanne J Byiers; Frank J Symons
Journal:  J Child Neurol       Date:  2015-05-21       Impact factor: 1.987

Review 3.  Rett syndrome: disruption of epigenetic control of postnatal neurological functions.

Authors:  Amy E Pohodich; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2015-06-09       Impact factor: 6.150

4.  Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Authors:  Erika Della Mina; Alessandro Borghesi; Hao Zhou; Salim Bougarn; Sabri Boughorbel; Laura Israel; Ilaria Meloni; Maya Chrabieh; Yun Ling; Yuval Itan; Alessandra Renieri; Iolanda Mazzucchelli; Sabrina Basso; Piero Pavone; Raffaele Falsaperla; Roberto Ciccone; Rosa Maria Cerbo; Mauro Stronati; Capucine Picard; Orsetta Zuffardi; Laurent Abel; Damien Chaussabel; Nico Marr; Xiaoxia Li; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2017-01-09       Impact factor: 11.205

5.  De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Authors:  Nathalie Fieremans; Marijke Bauters; Stefanie Belet; Jelle Verbeeck; Anna C Jansen; Sara Seneca; Filip Roelens; Elfride De Baere; Peter Marynen; Guy Froyen
Journal:  Hum Genet       Date:  2014-07-19       Impact factor: 4.132

6.  MECP2 impairs neuronal structure by regulating KIBRA.

Authors:  Alison A Williams; Robin White; Ashley Siniard; Jason Corneveaux; Matt Huentelman; Carsten Duch
Journal:  Neurobiol Dis       Date:  2016-03-22       Impact factor: 5.996

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

Authors:  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       Date:  2012-11-20       Impact factor: 5.216

Review 8.  Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Authors:  Hao Deng; Wen Zheng; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-11-22       Impact factor: 5.590

9.  Brief report: regression timing and associated features in MECP2 duplication syndrome.

Authors:  S U Peters; R J Hundley; A K Wilson; C M B Carvalho; J R Lupski; M B Ramocki
Journal:  J Autism Dev Disord       Date:  2013-10

Review 10.  MECP2 disorders: from the clinic to mice and back.

Authors:  Laura Marie Lombardi; Steven Andrew Baker; Huda Yahya Zoghbi
Journal:  J Clin Invest       Date:  2015-08-03       Impact factor: 14.808
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