The genetics of neurodevelopmental disease

被引：111

作者：

Mitchell, Kevin J. ^{[1
,2
]}

机构：

[1] Trinity Coll Dublin, Smurfit Inst Genet, Dublin 2, Ireland

[2] Trinity Coll Dublin, Inst Neurosci, Dublin 2, Ireland

来源：

CURRENT OPINION IN NEUROBIOLOGY | 2011年 / 21卷 / 01期

关键词：

AUTISM SPECTRUM DISORDERS; COPY NUMBER VARIATION; MENTAL-RETARDATION; RECURRENT MICRODELETIONS; SYNAPTIC-TRANSMISSION; STRUCTURAL VARIANTS; COMMON VARIANTS; SCHIZOPHRENIA; GENES; MUTATIONS;

D O I：

10.1016/j.conb.2010.08.009

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, awism spectrum disorders, and idiopathic epilepsy and mental retardation. After decades of frustration, the past couple of years have suddenly seen tremendous progress in unravelling the genetics of these common disorders. These findings have led to a paradigm shift in our conception of the genetic architecture of common neurodevelopmental disease, highlighting the importance of individual, rare mutations and overlapping genetic aetiology of various disorders. They have also converged on specific neurodevelopmental pathways, providing insights into pathogenic mechanisms.

引用

页码：197 / 203

页数：7

共 60 条

[1] Sequence variants in SLITRK1 are associated with Tourette's syndrome [J].

Abelson, JF ;

Kwan, KY ;

O'Roak, BJ ;

Baek, DY ;

Stillman, AA ;

Morgan, TM ;

Mathews, CA ;

Pauls, DA ;

Rasin, MR ;

Gunel, M ;

Davis, NR ;

Ercan-Sencicek, AG ;

Guez, DH ;

Spertus, JA ;

Leckman, JF ;

Dure, LS ;

Kurlan, R ;

Singer, HS ;

Gilbert, DL ;

Farhi, A ;

Louvi, A ;

Lifton, RP ;

Sestan, N ;

State, MW .

SCIENCE, 2005, 310 (5746) :317-320

[2]

[Anonymous], MOL PSYCHIAT

[3] Beyond Mendel: An evolving view of human genetic disease transmission [J].

Badano, JL ;

Katsanis, N .

NATURE REVIEWS GENETICS, 2002, 3 (10) :779-789

[4] Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders [J].

Bakkaloglu, Betul ;

O'Roak, Brian J. ;

Louvi, Angeliki ;

Gupta, Abha R. ;

Abelson, Jesse E. ;

Morgan, Thomas M. ;

Chawarska, Katarzyna ;

Klin, Ami ;

Ercan-Sencicek, A. Gulhan ;

Stillman, Althea A. ;

Tanriover, Gamze ;

Abrahams, Brett S. ;

Duvall, Jackie A. ;

Robbins, Elissa M. ;

Geschwind, Daniel H. ;

Biederer, Thomas ;

Gunel, Murat ;

Lifton, Richard P. ;

State, Matthew W. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :165-173

[5] Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation [J].

Berkel, Simone ;

Marshall, Christian R. ;

Weiss, Birgit ;

Howe, Jennifer ;

Roeth, Ralph ;

Moog, Ute ;

Endris, Volker ;

Roberts, Wendy ;

Szatmari, Peter ;

Pinto, Dalila ;

Bonin, Michael ;

Riess, Angelika ;

Engels, Hartmut ;

Sprengel, Rolf ;

Scherer, Stephen W. ;

Rappold, Gudrun A. .

NATURE GENETICS, 2010, 42 (06) :489-491

[6] Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes [J].

Bruining, Hilgo ;

de Sonneville, Leo ;

Swaab, Hanna ;

de Jonge, Maretha ;

Kas, Martien ;

van Engeland, Herman ;

Vorstman, Jacob .

PLOS ONE, 2010, 5 (05)

[7] Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes [J].

Bucan, Maja ;

Abrahams, Brett S. ;

Wang, Kai ;

Glessner, Joseph T. ;

Herman, Edward I. ;

Sonnenblick, Lisa I. ;

Retuerto, Ana I. Alvarez ;

Imielinski, Marcin ;

Hadley, Dexter ;

Bradfield, Jonathan P. ;

Kim, Cecilia ;

Gidaya, Nicole B. ;

Lindquist, Ingrid ;

Hutman, Ted ;

Sigman, Marian ;

Kustanovich, Vlad ;

Lajonchere, Clara M. ;

Singleton, Andrew ;

Kim, Junhyong ;

Wassink, Thomas H. ;

McMahon, William M. ;

Owley, Thomas ;

Sweeney, John A. ;

Coon, Hilary ;

Nurnberger, John I., Jr. ;

Li, Mingyao ;

Cantor, Rita M. ;

Minshew, Nancy J. ;

Sutcliffe, James S. ;

Cook, Edwin H. ;

Dawson, Geraldine ;

Buxbaum, Joseph D. ;

Grant, Struan F. A. ;

Schellenberg, Gerard D. ;

Geschwind, Daniel H. ;

Hakonarson, Hakon .

PLOS GENETICS, 2009, 5 (06)

[8] Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders [J].

Ching, Michael S. L. ;

Shen, Yiping ;

Tan, Wen-Hann ;

Jeste, Shafali S. ;

Morrow, Eric M. ;

Chen, Xiaoli ;

Mukaddes, Nahit M. ;

Yoo, Seung-Yun ;

Hanson, Ellen ;

Hundley, Rachel ;

Austin, Christina ;

Becker, Ronald E. ;

Berry, Gerard T. ;

Driscoll, Katherine ;

Engle, Elizabeth C. ;

Friedman, Sandra ;

Gusella, James F. ;

Hisama, Fuki M. ;

Irons, Mira B. ;

Lafiosca, Tina ;

LeClair, Elaine ;

Miller, David T. ;

Neessen, Michael ;

Picker, Jonathan D. ;

Rappaport, Leonard ;

Rooney, Cynthia M. ;

Sarco, Dean P. ;

Stoler, Joan M. ;

Walsh, Christopher A. ;

Wolff, Robert R. ;

Zhang, Ting ;

Nasir, Ramzi H. ;

Wu, Bai-Lin .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2010, 153B (04) :937-947

[9] Parental psychiatric disorders associated with autism spectrum disorders in the offspring [J].

Daniels, Julie L. ;

Forssen, Ulla ;

Hultman, Christina M. ;

Cnattingius, Sven ;

Savitz, David A. ;

Feychting, Maria ;

Sparen, Par .

PEDIATRICS, 2008, 121 (05) :E1357-E1362

[10] Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies [J].

de Kovel, Carolien G. F. ;

Trucks, Holger ;

Helbig, Ingo ;

Mefford, Heather C. ;

Baker, Carl ;

Leu, Costin ;

Kluck, Christian ;

Muhle, Hiltrud ;

von Spiczak, Sarah ;

Ostertag, Philipp ;

Obermeier, Tanja ;

Kleefuss-Lie, Ailing A. ;

Hallmann, Kerstin ;

Steffens, Michael ;

Gaus, Verena ;

Klein, Karl M. ;

Hamer, Hajo M. ;

Rosenow, Felix ;

Brilstra, Eva H. ;

Trenite, Dorothee Kasteleijn-Nolst ;

Swinkels, Marielle E. M. ;

Weber, Yvonne G. ;

Unterberger, Iris ;

Zimprich, Fritz ;

Urak, Lydia ;

Feucht, Martha ;

Fuchs, Karoline ;

Moller, Rikke S. ;

Hjalgrim, Helle ;

De Jonghe, Peter ;

Suls, Arvid ;

Rueckert, Ina-Maria ;

Wichmann, Heinz-Erich ;

Franke, Andre ;

Schreiber, Stefan ;

Nuernberg, Peter ;

Elger, Christian E. ;

Lerche, Holger ;

Stephani, Ulrich ;

Koeleman, Bobby P. C. ;

Lindhout, Dick ;

Eichler, Evan E. ;

Sander, Thomas .

BRAIN, 2010, 133 :23-32

← 1 2 3 4 5 6 →