Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

被引：15

作者：

Leeflang, EP

Marsh, SE

Parrini, E

Moro, F

Pilz, D

Dobyns, WB

Guerrini, R

Wheless, JW

Gleeson, JG ^{[1
]}

机构：

[1] Univ Calif San Diego, Dept Neurosci, MTF 312, La Jolla, CA 92093 USA

[2] Univ Pisa, IRCCS, Fdn Stella Maris, INPE,Neurogenet Lab, Pisa, Italy

[3] Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales

[4] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[5] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[6] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

[7] Great Ormond St Hosp Sick Children, Neurosci Unit, London WC1N 3JH, England

[8] UCL, Inst Child Hlth, London, England

[9] Univ Texas, Texas Comprehens Epilepsy Program, Dept Neurol & Pediat, Houston, TX USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 12期

关键词：

D O I：

10.1136/jmg.40.12.e128

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：6

共 17 条

[11] The human glutathione transferase alpha locus:: genomic organization of the gene cluster and functional characterization of the genetic polymorphism in the hGSTA1 promoter [J].

Morel, F ;

Rauch, C ;

Coles, B ;

Le Ferrec, E ;

Guillouzo, A .

PHARMACOGENETICS, 2002, 12 (04) :277-286

[12]

Rozen S, 2000, Methods Mol Biol, V132, P365

[13] Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females [J].

Sheen, VL ;

Dixon, PH ;

Fox, JW ;

Hong, SE ;

Kinton, L ;

Sisodiya, SM ;

Duncan, JS ;

Dubeau, F ;

Scheffer, IE ;

Schachter, SC ;

Wilner, A ;

Henchy, R ;

Crino, P ;

Kamuro, K ;

DiMario, F ;

Berg, M ;

Kuzniecky, R ;

Cole, AJ ;

Bromfield, E ;

Biber, M ;

Schomer, D ;

Wheless, J ;

Silver, K ;

Mochida, GH ;

Berkovic, SF ;

Andermann, F ;

Andermann, E ;

Dobyns, WB ;

Wood, NW ;

Walsh, CA .

HUMAN MOLECULAR GENETICS, 2001, 10 (17) :1775-1783

[14] Molecular cloning, chromosomal mapping and tissue-specific expression of a novel human α1,2-mannosidase gene involved in N-glycan maturation [J].

Tremblay, LO ;

Dyke, NC ;

Herscovics, A .

GLYCOBIOLOGY, 1998, 8 (06) :585-595

[15] Cloning and expression of a specific human α1,2-mannosidase that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan biosynthesis [J].

Tremblay, LO ;

Herscovics, A .

GLYCOBIOLOGY, 1999, 9 (10) :1073-1078

[16] A locus for bilateral perisylvian polymicrogyria maps to Xq28 [J].

Villard, L ;

Nguyen, K ;

Cardoso, C ;

Martin, CL ;

Weiss, AM ;

Sifry-Platt, M ;

Grix, AW ;

Graham, JM ;

Winter, RM ;

Leventer, RJ ;

Dobyns, WB .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (04) :1003-1008

[17] Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently x-linked trait [J].

Zollino, M ;

Colosimo, C ;

Zuffardi, O ;

Rossi, E ;

Tosolini, A ;

Walsh, CA ;

Neri, G .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (01) :65-71

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