MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

被引：25

作者：

Lambert, L. ^{[1
,2
,3
]}

Bienvenu, T. ^{[4
,5
]}

Allou, L. ^{[1
]}

Valduga, M. ^{[9
]}

Echenne, B. ^{[6
]}

Diebold, B. ^{[7
]}

Mignot, C. ^{[8
]}

Heron, D. ^{[8
]}

Roth, V. ^{[6
]}

Saunier, A. ^{[6
]}

Moustaine, A. ^{[6
]}

Jonveaux, P. ^{[1
,9
]}

Philippe, C. ^{[1
,9
]}

机构：

[1] Univ Lorraine, Fac Med, EA 4368, Deficiences Mentales & Anomalies Struct Genome, Rue Morvan, F-54511 Vandoeuvre Les Nancy 1, France

[2] Ctr Hosp Reg & Univ, Hop Enfants, Serv Med Infantile & Genet Clin 3, Vandoeuvre Les Nancy, France

[3] Maternite Reg Univ, Serv Med Neonatale, Unite Fonct Genet Clin, Nancy, France

[4] Hop Cochin, AP HP, Lab Biochim & Genet Mol, Paris, France

[5] Univ Paris 05, Inst Cochin, INSERM, UMR8104,U1016, Paris, France

[6] CHU Montpellier, Serv Neuropediat, Montpellier, France

[7] Hop Broca Cochin Hotel Dieu, AP HP, Lab Biochim & Genet Mol, Paris, France

[8] AP HP, Dept Genet, Grp Pitie Salpetriere, Paris, France

[9] Ctr Hosp Reg & Univ, Lab Genet Med, F-54511 Vandoeuvre Les Nancy 1, France

来源：

CLINICAL GENETICS | 2012年 / 82卷 / 05期

关键词：

SEVERE MENTAL-RETARDATION; MICRODELETION; REGION;

D O I：

10.1111/j.1399-0004.2012.01861.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：499 / 501

页数：3

共 3 条

[1] MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations [J].

Le Meur, N. ;

Holder-Espinasse, M. ;

Jaillard, S. ;

Goldenberg, A. ;

Joriot, S. ;

Amati-Bonneau, P. ;

Guichet, A. ;

Barth, M. ;

Charollais, A. ;

Journel, H. ;

Auvin, S. ;

Boucher, C. ;

Kerckaert, J-P ;

David, V. ;

Manouvrier-Hanu, S. ;

Saugier-Veber, P. ;

Frebourg, T. ;

Dubourg, C. ;

Andrieux, J. ;

Bonneau, D. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (01) :22-29

[2] Rett syndrome: new clinical and molecular insights [J].

Williamson, Sarah L. ;

Christodoulou, John .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (08) :896-903

[3] Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP2 and CDKL5 Expression [J].

Zweier, Markus ;

Gregor, Anne ;

Zweier, Christiane ;

Engels, Hartmut ;

Sticht, Heinrich ;

Wohlleber, Eva ;

Bijlsma, Emilia K. ;

Holder, Susan E. ;

Zenker, Martin ;

Rossier, Eva ;

Grasshoff, Ute ;

Johnson, Diana S. ;

Robertson, Lisa ;

Firth, Helen V. ;

Kraus, Cornelia ;

Ekici, Ara B. ;

Reis, Andre ;

Rauch, Anita .

HUMAN MUTATION, 2010, 31 (06) :722-733

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