Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11

被引：96

作者：

Marshall, Christian R. ^{[1
,2
,3
]}

Young, Edwin J. ^{[1
,2
,3
,4
]}

Pani, Ariel M. ^{[6
]}

Freckmann, Mary-Louise ^{[8
]}

Lacassie, Yves ^{[9
,10
]}

Howald, Cedric ^{[11
]}

Fitzgerald, Kristi K. ^{[12
,13
]}

Peippo, Maarit ^{[14
]}

Morris, Colleen A. ^{[15
]}

Shane, Kate ^{[16
]}

Priolo, Manuela ^{[17
]}

Morimoto, Masafumi ^{[18
]}

Kondo, Ikuko ^{[19
]}

Manguoglu, Esra ^{[20
]}

Berker-Karauzum, Sibel ^{[20
]}

Edery, Patrick ^{[21
]}

Hobart, Holly H. ^{[15
]}

Mervis, Carolyn B. ^{[7
]}

Zuffardi, Orsetta ^{[22
,23
]}

Reymond, Alexandre

Kaplan, Paige

Tassabehji, May ^{[24
]}

Gregg, Ronald G. ^{[6
]}

Scherer, Stephen W. ^{[1
,2
,3
]}

Osborne, Lucy R. ^{[1
,4
,5
]}

机构：

[1] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada

[2] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1L7, Canada

[3] Hosp Sick Children, Ctr Appl Gen, Toronto, ON M5G 1L7, Canada

[4] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada

[5] Univ Toronto, Dept Med, Toronto, ON M5S 1A8, Canada

[6] Univ Louisville, Dept Biochem & Mol Biol, Louisville, KY 40292 USA

[7] Univ Louisville, Dept Psychol & Brain Sci, Louisville, KY 40292 USA

[8] Sydney Childrens Hosp, Dept Clin Genet, Randwick, NSW 2031, Australia

[9] Louisiana State Univ, Div Genet, Dept Pediat, Hlth Sci Ctr, New Orleans, LA 70118 USA

[10] Childrens Hosp, New Orleans, LA 70118 USA

[11] Univ Lausanne, Ctr Integrat Gen, CH-1015 Lausanne, Switzerland

[12] Childrens Hosp Philadelphia, Sect Metab Dis, Philadelphia, PA 19104 USA

[13] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA

[14] Dept Med Genet, Helsinki 00101, Finland

[15] Univ Nevada, Dept Pediat, Sch Med, Las Vegas, NV 89102 USA

[16] Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA

[17] Hosp Reggio Calabria Az Ospedaliera Bianchi Melac, Operat Unit Med Genet, I-89100 Reggio Di Calabria, Italy

[18] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto 6028566, Japan

[19] Ibaraki Prefectural Handicapped Childrens Ctr, Dept Pediat, Ibaraki 3100845, Japan

[20] Akdeniz Univ, Dept Med Biol & Genet, Sch Med, TR-07070 Antalya, Turkey

[21] Ctr Biol & Pathol, Serv Cytogenet Constitutionnelle, F-69677 Bron, France

[22] Univ Pavia, I-27100 Pavia, Italy

[23] IRCCS Policlin, I-27100 Pavia, Italy

[24] Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 83卷 / 01期

关键词：

D O I：

10.1016/j.ajhg.2008.06.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse.

引用

页码：106 / 111

页数：6

共 40 条

[1] Causes of epilepsy: Contributions of the Rochester epidemiology project [J].

Annegers, JF ;

Rocca, WA ;

Hauser, WA .

MAYO CLINIC PROCEEDINGS, 1996, 71 (06) :570-575

[2] Mutational mechanisms of Williams-Beuren syndrome deletions [J].

Bayés, M ;

Magano, LF ;

Rivera, N ;

Flores, R ;

Jurado, LAP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :131-151

[3] Two-year remission and subsequent relapse in children with newly diagnosed epilepsy [J].

Berg, AT ;

Shinnar, S ;

Levy, SR ;

Testa, FM ;

Smith-Rapaport, S ;

Beckerman, B ;

Ebrahimi, N .

EPILEPSIA, 2001, 42 (12) :1553-1562

[4] Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms [J].

Chen, L ;

Chetkovich, DM ;

Petralia, RS ;

Sweeney, NT ;

Kawasaki, Y ;

Wenthold, RJ ;

Bredt, DS ;

Nicoll, RA .

NATURE, 2000, 408 (6815) :936-943

[5] An interstitial deletion of chromosome 7 at band q21:: A case report and review [J].

Courtens, W ;

Vermeulen, S ;

Wuyts, W ;

Messiaen, L ;

Wauters, J ;

Nuytinck, L ;

Peeters, N ;

Storm, K ;

Speleman, F ;

Nöthen, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (01) :12-23

[6] The epidemiology of the epilepsies in children [J].

Cowan, LD .

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS, 2002, 8 (03) :171-181

[7]

Curatolo P, 1996, CHILD NERV SYST, V12, P515

[8] Myoclonus in a patient with a deletion of the ε-sarcoglyean locus on chromosome 7q21 [J].

DeBerardinis, RJ ;

Conforto, D ;

Russell, K ;

Kaplan, J ;

Kollros, PR ;

Zackai, EH ;

Emanuel, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 121A (01) :31-36

[9] Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain [J].

Deng, Fang ;

Price, Maureen G. ;

Davis, Caleb F. ;

Mori, Mayra ;

Burgess, Daniel L. .

JOURNAL OF NEUROSCIENCE, 2006, 26 (30) :7875-7884

[10] An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism [J].

Edelmann, Lisa ;

Prosnitz, Aaron ;

Pardo, Sherly ;

Bhatt, Jahnavi ;

Cohen, Ninette ;

Lauriat, Tara ;

Ouchanov, Leonid ;

Gonzalez, Patricia J. ;

Manghi, Elina R. ;

Bondy, Pamela ;

Esquivel, Marcela ;

Monge, Silvia ;

Delgado, Marietha F. ;

Splendore, Alessandra ;

Francke, Uta ;

Burton, Barbara K. ;

McInnes, L. Alison .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (02) :136-143

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