The Diverse Genetic Landscape of Neurodevelopmental Disorders

被引：129

作者：

Hu, Wen F. ^{[1
,2
,3
,4
,5
]}

Chahrour, Maria H. ^{[1
,2
,3
,6
,8
]}

Walsh, Christopher A. ^{[1
,2
,3
,6
,7
,8
]}

机构：

[1] Childrens Hosp, Dept Med, Div Genet & Gen, Boston, MA 02115 USA

[2] Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

[3] Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02115 USA

[5] Harvard Univ, Sch Med, Harvard MD PhD MSTP Program, Boston, MA 02115 USA

[6] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[7] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[8] Autism Consortium, Boston, MA 02115 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15 | 2014年 / 15卷

关键词：

neurodevelopment; brain malformations; somatic mutations; autism; AUTISM SPECTRUM DISORDERS; CONGENITAL MUSCULAR-DYSTROPHY; EYE-BRAIN DISEASE; DE-NOVO MUTATIONS; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; COPY-NUMBER VARIATION; MICROTUBULE-ASSOCIATED PROTEIN; LINKED MENTAL-RETARDATION; TUBEROUS SCLEROSIS GENE; CEREBRAL CORTICAL SIZE;

D O I：

10.1146/annurev-genom-090413-025600

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

引用

页码：195 / 213

页数：19

共 143 条

[1] A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder [J].

Absoud, Michael ;

Parr, Jeremy R. ;

Halliday, Dorothy ;

Pretorius, Pieter ;

Zaiwalla, Zenobia ;

Jayawant, Sandeep .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (03) :305-307

[2] Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly [J].

Alkuraya, Fowzan S. ;

Cai, Xuyu ;

Emery, Carina ;

Mochida, Ganeshwaran H. ;

Al-Dosari, Mohammed S. ;

Felie, Jillian M. ;

Hill, R. Sean ;

Barry, Brenda J. ;

Partlow, Jennifer N. ;

Gascon, Generoso G. ;

Kentab, Amal ;

Jan, Mohammad ;

Shaheen, Ranad ;

Feng, Yuanyi ;

Walsh, Christopher A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (05) :536-547

[3]

Applegarth D A, 2004, J Inherit Metab Dis, V27, P417, DOI 10.1023/B:BOLI.0000031222.38328.59

[4] Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis [J].

Applegarth, DA ;

Toone, JR .

MOLECULAR GENETICS AND METABOLISM, 2001, 74 (1-2) :139-146

[5] Malformations of Cortical Development [J].

Aronica, Eleonora ;

Becker, Albert J. ;

Spreafico, Roberto .

BRAIN PATHOLOGY, 2012, 22 (03) :380-401

[6] Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts [J].

Awadalla, Philip ;

Gauthier, Julie ;

Myers, Rachel A. ;

Casals, Ferran ;

Hamdan, Fadi F. ;

Griffing, Alexander R. ;

Cote, Melanie ;

Henrion, Edouard ;

Spiegelman, Dan ;

Tarabeux, Julien ;

Piton, Amelie ;

Yang, Yan ;

Boyko, Adam ;

Bustamante, Carlos ;

Xiong, Lan ;

Rapoport, Judith L. ;

Addington, Aniene M. ;

DeLisi, J. Lynn E. ;

Krebs, Marie-Odile ;

Joober, Ridha ;

Millet, Bruno ;

Fombonne, Eric ;

Mottron, Laurent ;

Zilversmit, Martine ;

Keebler, Jon ;

Daoud, Hussein ;

Marineau, Claude ;

Roy-Gagnon, Marie-Helene ;

Dube, Marie-Pierre ;

Eyre-Walker, Adam ;

Drapeau, Pierre ;

Stone, Eric A. ;

Lafreniere, Ronald G. ;

Rouleau, Guy A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) :316-324

[7] Equal Numbers of Neuronal and Nonneuronal Cells Make the Human Brain an Isometrically Scaled-Up Primate Brain [J].

Azevedo, Frederico A. C. ;

Carvalho, Ludmila R. B. ;

Grinberg, Lea T. ;

Farfel, Jose Marcelo ;

Ferretti, Renata E. L. ;

Leite, Renata E. P. ;

Jacob Filho, Wilson ;

Lent, Roberto ;

Herculano-Houzel, Suzana .

JOURNAL OF COMPARATIVE NEUROLOGY, 2009, 513 (05) :532-541

[8] Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders [J].

Baek, Seung Tae ;

Gibbs, Elizabeth M. ;

Gleeson, Joseph G. ;

Mathern, Gary W. .

CURRENT OPINION IN NEUROLOGY, 2013, 26 (02) :122-127

[9] New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum [J].

Bahi-Buisson, Nadia ;

Souville, Isabelle ;

Fourniol, Franck J. ;

Toussaint, Aurelie ;

Moores, Carolyn A. ;

Houdusse, Anne ;

Lemaitre, Jean Yves ;

Poirier, Karine ;

Khalaf-Nazzal, Reham ;

Hully, Marie ;

Leger, Pierre Louis ;

Elie, Caroline ;

Boddaert, Nathalie ;

Beldjord, Cherif ;

Chelly, Jamel ;

Francis, Fiona .

BRAIN, 2013, 136 :223-244

[10] RNAi reveals doublecortin is required for radial migration in rat neocortex [J].

Bai, JL ;

Ramos, RL ;

Ackman, JB ;

Thomas, AM ;

Lee, RV ;

LoTurco, JJ .

NATURE NEUROSCIENCE, 2003, 6 (12) :1277-1283

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