Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

被引：14

作者：

Borgatti, Renato ^{[1
]}

Marelli, Susan ^{[1
]}

Bernardini, Laura ^{[2
]}

Novelli, Antonio ^{[2
]}

Cavallini, Anna ^{[1
]}

Tonelli, Alessandra ^{[3
]}

Bassi, Maria Teresa

Dallapiccola, Bruno ^{[2
,4
]}

机构：

[1] Sci Inst E Medea, Dept Child Neuropsychiat & Neurorehabil, Lecce, Italy

[2] IRCCS CSS San Giovanni Rotondo & CSS Mendel Inst, Rome, Italy

[3] E Medea Sci Inst, Mol Biol Lab, Lecce, Italy

[4] Sapienza Univ, Dept Expt Med, Rome, Italy

来源：

CLINICAL GENETICS | 2009年 / 76卷 / 06期

关键词：

PROTEIN; MUTATIONS;

D O I：

10.1111/j.1399-0004.2009.01262.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：573 / 576

页数：4

共 13 条

[1] Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 [J].

Chang, BS ;

Piao, XH ;

Bodell, A ;

Basel-Vanagaite, L ;

Straussberg, R ;

Dobyns, WB ;

Qasrawi, B ;

Winter, RM ;

Innes, AM ;

Voit, T ;

Grant, PE ;

Barkovich, AJ ;

Walsh, CA .

ANNALS OF NEUROLOGY, 2003, 53 (05) :596-606

[2] There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini [J].

Fredriksson, R ;

Gloriam, DEI ;

Höglund, PJ ;

Lagerström, MC ;

Schiöth, HB .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2003, 301 (03) :725-734

[3] Plasmolipin:: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome [J].

Hamacher, M ;

Pippirs, U ;

Köhler, A ;

Müller, HW ;

Bosse, F .

MAMMALIAN GENOME, 2001, 12 (12) :933-937

[4] Genetics of the polymicrogyria syndromes [J].

Jansen, A ;

Andermann, E .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (05) :369-378

[5] Disease-associated mutations affect GPR56 protein trafficking and cell surface expression [J].

Jin, Zhaohui ;

Tietjen, Ian ;

Bu, Lihong ;

Liu-Yesucevitz, Liqun ;

Gaur, Shantanu K. ;

Walsh, Christopher A. ;

Piao, Xianhua .

HUMAN MOLECULAR GENETICS, 2007, 16 (16) :1972-1985

[6] Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP) [J].

Ke, Ning ;

Ma, Hongwen ;

Diedrich, Gundo ;

Chionis, John ;

Liu, Guohong ;

Yu, De-Hua ;

Wong-Staal, Flossie ;

Li, Qi-Xiang .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 366 (02) :314-320

[7] GPR56 regulates pial basement membrane integrity and cortical lamination [J].

Li, Shihong ;

Jin, Zhaohui ;

Koirala, Samir ;

Bu, Lihong ;

Xu, Lei ;

Hynes, Richard O. ;

Walsh, Christopher A. ;

Corfas, Gabriel ;

Piao, Xianhua .

JOURNAL OF NEUROSCIENCE, 2008, 28 (22) :5817-5826

[8] Molecular cloning and expression analysis of three cadherin-8 isoforms in the embryonic chicken brain [J].

Lin, Juntang ;

Luo, Jiankai ;

Redies, Christoph .

BRAIN RESEARCH, 2008, 1201 :1-14

[9] GPR56, a novel secretin-like human G-protein-coupled receptor gene [J].

Liu, M ;

Parker, RMC ;

Darby, K ;

Eyre, HJ ;

Copeland, NG ;

Crawford, J ;

Gilbert, DJ ;

Sutherland, GR ;

Jenkins, NA ;

Herzog, H .

GENOMICS, 1999, 55 (03) :296-305

[10] Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes [J].

Piao, XH ;

Chang, BS ;

Bodell, A ;

Woods, K ;

BenZeev, B ;

Topcu, M ;

Guerrini, R ;

Goldberg-Stern, H ;

Sztriha, L ;

Dobyns, WB ;

Barkovich, AJ ;

Walsh, CA .

ANNALS OF NEUROLOGY, 2005, 58 (05) :680-687

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