22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

被引：344

作者：

Karayiorgou, Maria ^{[1
,2
]}

Simon, Tony J. ^{[3
]}

Gogos, Joseph A. ^{[4
,5
]}

机构：

[1] Columbia Univ, Med Ctr, Dept Psychiat, New York, NY 10032 USA

[2] New York State Psychiat Inst & Hosp, New York, NY 10032 USA

[3] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA

[4] Columbia Univ, Med Ctr, Dept Neurosci, New York, NY 10032 USA

[5] Columbia Univ, Med Ctr, Dept Physiol & Cellular Biophys, New York, NY 10032 USA

来源：

NATURE REVIEWS NEUROSCIENCE | 2010年 / 11卷 / 06期

基金：

美国国家卫生研究院;

关键词：

CATECHOL-O-METHYLTRANSFERASE; CARDIO-FACIAL SYNDROME; NONSPATIAL WORKING-MEMORY; LOW-COPY REPEATS; DELETION SYNDROME; VELOCARDIOFACIAL SYNDROME; MOUSE MODEL; MISMATCH NEGATIVITY; PREFRONTAL CORTEX; FUNCTIONAL CONNECTIVITY;

D O I：

10.1038/nrn2841

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in chromosome 22q11.2. These studies have highlighted a strong link between this genetic lesion and schizophrenia. Parallel studies in humans and animal models are starting to uncover the complex genetic and neural substrates altered by the microdeletion. In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.

引用

页码：402 / 416

页数：15

共 194 条

[1] Mismatch negativity and frequency representational width in children with specific language impairment [J].

Ahmmed, Ansar U. ;

Clarke, Elaine M. ;

Adams, Catherine .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2008, 50 (12) :938-944

[2] The functions of animal microRNAs [J].

Ambros, V .

NATURE, 2004, 431 (7006) :350-355

[3] Atypical trajectories of number development: a neuroconstructivist perspective [J].

Ansari, D ;

Karmiloff-Smith, A .

TRENDS IN COGNITIVE SCIENCES, 2002, 6 (12) :511-516

[4] Linking visual attention and number processing in the brain: The role of the temporo-parietal junction in small and large symbolic and nonsymbolic number comparison [J].

Ansari, Daniel ;

Lyons, Ian M. ;

van Eimeren, Lucia ;

Xu, Fei .

JOURNAL OF COGNITIVE NEUROSCIENCE, 2007, 19 (11) :1845-1853

[5] Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion) [J].

Antshel, Kevin M. ;

Aneja, Alka ;

Strunge, Leslie ;

Peebles, Jena ;

Fremont, Wanda P. ;

Stallone, Kimberly ;

AbdulSabur, Nuria ;

Higgins, Anne Marie ;

Shprintzen, Robert J. ;

Kates, Wendy R. .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2007, 37 (09) :1776-1786

[6] ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome [J].

Antshel, KM ;

Fremont, W ;

Roizen, NJ ;

Shprintzen, R ;

Higgins, AM ;

Dhamoon, A ;

Kates, WR .

JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2006, 45 (05) :596-603

[7] Modeling madness in mice: One piece at a time [J].

Arguello, P. Alexander ;

Gogos, Joseph A. .

NEURON, 2006, 52 (01) :179-196

[8] Cognition in Mouse Models of Schizophrenia Susceptibility Genes [J].

Arguello, P. Alexander ;

Gogos, Joseph A. .

SCHIZOPHRENIA BULLETIN, 2010, 36 (02) :289-300

[9] Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia [J].

Arinami, Tadao .

JOURNAL OF HUMAN GENETICS, 2006, 51 (12) :1037-1045

[10] Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders [J].

Arnold, PD ;

Siegel-Bartelt, J ;

Cytrynbaum, C ;

Teshima, I ;

Schachar, R .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 105 (04) :354-362

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