The Genetics of Neurodevelopmental Disorders

385 Pages·2015·5.4 MB·English

by  Kevin J. Mitchell

THE GENETICS OF
NEURODEVELOPMENTAL
DISORDERS

THE GENETICS OF
NEURODEVELOPMENTAL
DISORDERS
Editedby
KEVINJ.MITCHELL
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LibraryofCongressCataloging-in-PublicationData:
Thegeneticsofneurodevelopmentaldisorders/editedbyKevinJ.Mitchell.
p.;cm.
Includesbibliographicalreferencesandindex.
ISBN978-1-118-52488-6(cloth)
I.Mitchell,KevinJ.(Professorofgenetics),editor.[DNLM:1.IntellectualDisability–genetics.2.Developmental
Disabilities–genetics.WM300]
RJ496.N49
618.92′80475–dc23
2015006778
PrintedintheUnitedStatesofAmerica
10987654321
1 2015
CONTENTS
ListofContributors vii
Foreword KevinJ.Mitchell ix
1 TheGeneticArchitectureofNeurodevelopmentalDisorders 1
KevinJ.Mitchell
2 OverlappingEtiologyofNeurodevelopmentalDisorders 29
EricKelleherandAidenCorvin
3 TheMutationalSpectrumofNeurodevelopmentalDisorders 49
NancyD.Merner,PatrickA.Dion,andGuyA.Rouleau
4 TheRoleofGeneticInteractionsinNeurodevelopmentalDisorders 69
JasonH.MooreandKevinJ.Mitchell
5 DevelopmentalInstability,MutationLoad,andNeurodevelopmentalDisorders 81
RonaldA.YeoandStevenW.Gangestad
6 EnvironmentalFactorsandGene–EnvironmentInteractions 111
JohnMcGrath
7 TheGeneticsofBrainMalformations 129
M.ChiaraManziniandChristopherA.Walsh
8 DisordersofAxonGuidance 155
HeikeBlockusandAlainChédotal
v
vi CONTENTS
9 SynapticDisorders 195
CatalinaBetancurandKevinJ.Mitchell
10 HumanStemCellModelsofNeurodevelopmentalDisorders 239
PeterKirwanandFrederickJ.Livesey
11 AnimalModelsforNeurodevelopmentalDisorders 261
HalaHarony-NicolasandJosephD.Buxbaum
12 CascadingGeneticandEnvironmentalEffectsonDevelopment:Implicationsfor
Intervention 275
EshaMassandandAnnetteKarmiloff-Smith
13 HumanGeneticsandClinicalAspectsofNeurodevelopmentalDisorders 289
GholsonJ.LyonandJasonO’Rawe
14 ProgressTowardTherapiesandInterventionsforNeurodevelopmentalDisorders 319
AyokunmiAjetunmobiandDanielaTropea
SubjectIndex 345
GeneIndex 353
LIST OF CONTRIBUTORS
Aiden Corvin Department of Psychiatry and
Ayokunmi Ajentunmobi, Nanomedicine and
Neuropsychiatric Genetics Research Group,
Molecular Imaging Group, Department
Institute of Molecular Medicine, Trinity
of Clinical Medicine, School of Medicine,
CollegeDublin,Dublin2,Ireland
TrinityCollegeDublin,Dublin,Ireland
PatrickA.Dion,DepartmentofPathologyand
Catalina Betancur, INSERM U1130, Paris,
Cellular Biology, Université de Montréal,
France; CNRS UMR 8246, Paris, France;
Montréal,QC,Canada;MontrealNeurolog-
Sorbonne Universités, UPMC Univ Paris 6,
ical Institute, McGill University, Montréal,
NeuroscienceParisSeine,Paris,France
QC,Canada
Heike Blockus, Sorbonne Universités, UPMC
StevenW.Gangestad,DepartmentofPsychol-
Univ Paris, UMRS968 and CNRS, UMR
ogy,UniversityofNewMexico,Albuquerque,
7210, Institut de la Vision, Paris, France;
NM,USA
INSERM, Institut de la Vision, UMRS_968,
Paris, France; CNRS, UMR_7210, Paris, Hala Harony-Nicolas, Seaver Autism Center
France for Research and Treatment, Departments
of Psychiatry, Neuroscience, and Genetics
Joseph D. Buxbaum, Seaver Autism Center
and Genomic Sciences, The Friedman Brain
for Research and Treatment, Departments
Institute and the Mindich Child Health
of Psychiatry, Neuroscience, and Genetics
and Development Institute, Icahn School of
and Genomic Sciences, The Friedman Brain
MedicineatMountSinai,NewYork,NY,USA
Institute and the Mindich Child Health
and Development Institute, Icahn School of Annette Karmiloff-Smith, Centre for Brain
MedicineatMountSinai,NewYork,NY,USA andCognitiveDevelopmentofPsychological
Sciences, School of Sciences, Birkbeck,
Alain Chédotal, Sorbonne Universités, UPMC
BirkbeckUniversityofLondon,London,UK
Univ Paris, UMRS968 and CNRS, UMR
7210, Institut de la Vision, Paris, France; Eric Kelleher Department of Psychiatry and
INSERM, Institut de la Vision, UMRS_968, Neuropsychiatric Genetics Research Group,
Paris, France; CNRS, UMR_7210, Paris, Institute of Molecular Medicine, Trinity
France CollegeDublin,Dublin2,Ireland
vii
viii LISTOFCONTRIBUTORS
PeterKirwan,GurdonInstitute,Departmentof Nancy D. Merner, CHUM Research Center,
BiochemistryandCambridgeStemCellInsti- Université de Montréal, Montréal, QC,
Canada;DepartmentofDrugDiscoveryand
tute, University of Cambridge, Cambridge,
Development,HarrisonSchoolofPharmacy,
UK
AuburnUniversity,Auburn,AL,USA
FrederickJ.Livesey,GurdonInstitute,Depart-
KevinJ.Mitchell,SmurfitInstituteofGenetics
ment of Biochemistry and Cambridge Stem
andInstituteofNeuroscience,TrinityCollege
Cell Institute, University of Cambridge, Dublin,Dublin,Ireland
Cambridge,UK
Jason H. Moore, Institute for Quantitative
GholsonJ.Lyon,StanleyInstituteforCognitive BiomedicalSciences,DepartmentsofGenet-
ics and Community and Family Medicine,
Genomics, Cold Spring Harbor Laboratory,
Geisel School of Medicine, Dartmouth
Cold Spring Harbor, NY, USA; Institute for
College,Hanover,NH,USA
Genomic Medicine, Utah Foundation for
Biomedical Research, E 3300˜S, Salt Lake Jason O’Rawe, Stanley Institute for Cognitive
Genomics, Cold Spring Harbor Laboratory,
City, UT, USA; Department of Psychiatry,
Cold Spring Harbor, NY, USA; Graduate
Stony Brook University, Stony Brook, NY,
PrograminGenetics,StonyBrookUniversity,
USA
StonyBrook,NY,USA
M.ChiaraManzini,DepartmentofPharmacol- Guy A. Rouleau, Montreal Neurological
ogyandPhysiology,andIntegrativeSystems Institute, McGill University, Montréal, QC,
Biology, The George Washington University, Canada
Washington,DC,USA
Daniela Tropea, Department of Psychiatry,
TrinityCentreforHealthSciences,St.James
EshaMassand,CentreforBrainandCognitive
Hospital,Dublin,Ireland
Development, Department of Psychological
Sciences, School of Sciences, Birkbeck, Christopher A. Walsh, Division of Genetics,
The Manton Center for Orphan Disease
UniversityofLondon,London,UK
ResearchandHowardHughesMedicalInsti-
John McGrath, Queensland Brain Institute, tute, Boston Children’s Hospital, Boston,
The University of Queensland, St. Lucia, MA,USA
QLD,Australia;QueenslandCentreforMed-
Ronald A. Yeo, Department of Psychology,
ical Health Research, The Park Centre for University of New Mexico, Albuquerque,
MentalHealth,Richlands,QLD,Australia NM,USA