CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

被引：6

作者：

Cordova-Fletes, C. ^{[2
,3
]}

Rademacher, N. ^{[1
]}

Mueller, I. ^{[1
]}

Mundo-Ayala, J. N. ^{[2
,3
]}

Morales-Jeanhs, E. A. ^{[2
,3
]}

Garcia-Ortiz, J. E. ^{[2
]}

Leon-Gil, A. ^{[4
]}

Rivera, H. ^{[2
,3
]}

Dominguez, M. G. ^{[2
,3
]}

Kalscheuer, V. M. ^{[1
]}

机构：

[1] Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany

[2] CMNO IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara 44340, Jalisco, Mexico

[3] Univ Guadalajara, Guadalajara 44340, Jalisco, Mexico

[4] UMAE Hosp Pediat, CMNO IMSS, Dept Neurol & Neurocirugia Pediat, Guadalajara 44340, Jalisco, Mexico

来源：

CLINICAL GENETICS | 2010年 / 77卷 / 01期

关键词：

EARLY-ONSET SEIZURES; MENTAL-RETARDATION; RETT-SYNDROME; WEST-SYNDROME; MUTATIONS; GENE; FEATURES; INACTIVATION; DISRUPTION; VARIANT;

D O I：

10.1111/j.1399-0004.2009.01286.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：92 / 96

页数：5

共 21 条

[1] West syndrome in a patient with balanced translocation t(X;18)(p22;p11.2) [J].

Akabori, Shie ;

Takano, Tomoyuki ;

Fujito, Hiroshi ;

Takeuchi, Yoshihiro .

PEDIATRIC NEUROLOGY, 2007, 37 (01) :64-66

[2]

ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[3] CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients [J].

Archer, H. L. ;

Evans, J. ;

Edwards, S. ;

Colley, J. ;

Newbury-Ecob, R. ;

O'Callaghan, F. ;

Huyton, M. ;

O'Regan, M. ;

Tolmie, J. ;

Sampson, J. ;

Clarke, A. ;

Osborne, J. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (09) :729-734

[4]

Arkesteijn G, 1999, CYTOMETRY, V35, P117, DOI 10.1002/(SICI)1097-0320(19990201)35:2<117::AID-CYTO2>3.0.CO

[5]

2-L

[6] Key clinical features to identify girls with CDKL5 mutations [J].

Bahi-Buisson, Nadia ;

Nectoux, Juliette ;

Rosas-Vargas, Haydee ;

Milh, Mathieu ;

Boddaert, Nathalie ;

Girard, Benoit ;

Cances, Claude ;

Ville, Dorothee ;

Afenjar, Alexandra ;

Rio, Marlene ;

Heron, Delphine ;

Morel, Marie Ange N'Guyen ;

Arzimanoglou, Alexis ;

Philippe, Christophe ;

Jonveaux, Philippe ;

Chelly, Jamel ;

Bienvenu, Thierry .

BRAIN, 2008, 131 :2647-2661

[7] The three stages of epilepsy in patients with CDKL5 mutations [J].

Bahi-Buisson, Nadia ;

Kaminska, Anna ;

Boddaert, Nathalie ;

Rio, Marlene ;

Afenjar, Alexandra ;

Gerard, Marion ;

Giuliano, Fabienne ;

Motte, Jacques ;

Heron, Delphine ;

Morel, Marie Ange N'Guyen ;

Plouin, Perrine ;

Richelme, Christian ;

des Portes, Vincent ;

Dulac, Olivier ;

Philippe, Christophe ;

Chiron, Catherine ;

Nabbout, Rima ;

Bienvenu, Thierry .

EPILEPSIA, 2008, 49 (06) :1027-1037

[8] Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation [J].

Bertani, Ilaria ;

Rusconi, Laura ;

Bolognese, Fabrizio ;

Forlani, Greta ;

Conca, Barbara ;

De Monte, Lucia ;

Badaracco, Gianfranco ;

Landsberger, Nicoletta ;

Kilstrup-Nielsen, Charlotte .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (42) :32048-32056

[9] Mapping translocation breakpoints by next-generation sequencing [J].

Chen, Wei ;

Kalscheuer, Vera ;

Tzschach, Andreas ;

Menzel, Corinna ;

Ullmann, Reinhard ;

Schulz, Marcel Holger ;

Erdogan, Fikret ;

Li, Na ;

Kijas, Zofia ;

Arkesteijn, Ger ;

Pajares, Isidora Lopez ;

Goetz-Sothmann, Margret ;

Heinrich, Uwe ;

Rost, Imma ;

Dufke, Andreas ;

Grasshoff, Ute ;

Glaeser, Birgitta ;

Vingron, Martin ;

Ropers, H. Hilger .

GENOME RESEARCH, 2008, 18 (07) :1143-1149

[10] Early onset seizures and Rett-like features associated with mutations in CDKL5 [J].

Evans, JC ;

Archer, HL ;

Colley, JP ;

Ravn, K ;

Nielsen, JB ;

Kerr, A ;

Williams, E ;

Christodoulou, J ;

Gécz, J ;

Jardine, PE ;

Wright, MJ ;

Pilz, DT ;

Lazarou, L ;

Cooper, DN ;

Sampson, JR ;

Butler, R ;

Whatley, SD ;

Clarke, AJ .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (10) :1113-1120

← 1 2 3 →