The Genetics and Development of Scoliosis

227 Pages·2010·3.52 MB·English

by  Kenro Kusumi

The Genetics and Development of Scoliosis
·
Kenro Kusumi Sally L. Dunwoodie
Editors
The Genetics and
Development of Scoliosis
123
Editors
KenroKusumi SallyL.Dunwoodie
SchoolofLifeSciences DevelopmentalBiologyDivision
ArizonaStateUniversity VictorChangCardiacResearchInstitute
P.O.Box874501 UniversityofNewSouthWales
TempeAZ85287-4501 LowyPackerBuilding
USA 405LiverpoolSt.
DarlinghurstNSW2010
Australia
ISBN978-1-4419-1405-7 e-ISBN978-1-4419-1406-4
DOI10.1007/978-1-4419-1406-4
SpringerNewYorkDordrechtHeidelbergLondon
LibraryofCongressControlNumber:2009941779
©SpringerScience+BusinessMedia,LLC2010
Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewritten
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Theeditorsthankthepatientsandtheirfamilies
whohaveparticipatedinscoliosisgeneticstudies
andtheresearchcollaboratorswhohavemade
theseeffortspossible
Preface
Scoliosisisalateralcurvatureofthespinethatisfrequentlyencounteredbyhealth-
care professionals. Scoliosis has historically been categorized into congenital,
neuromuscular, and idiopathic forms, and related curves include kyphosis, kypho-
scoliosis,andlordosis.Patientsaffectedbyscoliosisareconcernedaboutprognosis,
associated health conditions, and recurrence risks. Developmental genetic stud-
ies of the spine and linkage and family-based association studies have led to
recent advances in understanding the genetic etiology of idiopathic and congeni-
talscoliosis.Advancesingenotypingandsequencingtechnologypromisetofurther
increaseourunderstandingoftheheterogeneousgroupofdisordersinvolvingspinal
curvatures.
The inspiration for this volume was derived from the invited session,
StraighteningOuttheCurves:UnderstandingtheGeneticsBasisofIdiopathicand
CongenitalScoliosisorganizedatthe2008AmericanCollegeofMedicalGenetics,
Annual Clinical Genetics Meeting in Phoenix, AZ, USA. The goals of that ses-
sion were to bring leading researchers of both congenital and idiopathic scoliosis
to present the current state of research and to compare potential shared develop-
mentalandgeneticmechanisms.Followinguponthediscussionsfromthissession,
thisvolumepresentstherecentadvancesinstudiesofearlyspinaldevelopmentand
howdisruptionsinembryonicsegmentationcanleadtocongenitalvertebraldefects.
Thisvolumealsodescribesarecentlydefinedclinicalclassificationsystemforcon-
genitalvertebraldisorders,basedonidentificationofmutationsingenesregulating
segmentation. In addition, recent reports of genetic loci predisposing patients to
developjuvenileandadolescentidiopathicscoliosisarepresented,andkeyclinical
featuresarereviewed.Finally,thereisdiscussionofhowgeneticheterogeneityand
gene–environment interactions may contribute to congenital scoliosis and isolated
vertebralmalformations.
vii
viii Preface
Our understanding of the genetic and developmental mechanisms underlying
scoliosisisrapidlyevolving,andourgoalineditingTheGeneticsandDevelopment
ofScoliosiswastoprovideresearchers,clinicians,andstudentswiththeemerging
viewsinthisfield.
Tempe,Arizona KenroKusumi
Darlinghurst,NewSouthWales SallyL.Dunwoodie
Contents
1 GeneticRegulationofSomiteandEarlySpinalPatterning . . . . . 1
KenroKusumi,WalterEckalbar,andOlivierPourquié
2 DevelopmentandFunctionalAnatomyoftheSpine . . . . . . . . . 21
AlanRawlsandRebeccaE.Fisher
3 EnvironmentalFactorsandAxialSkeletalDysmorphogenesis . . . 47
PeterG.AlexanderandRockyS.Tuan
4 OverviewandComparisonofIdiopathic,Neuromuscular,
andCongenitalFormsofScoliosis. . . . . . . . . . . . . . . . . . . 73
BenjaminAlman
5 Abnormal Vertebral Segmentation (or Segmentation
DefectsoftheVertebrae)andtheSpondylocostalDysostoses . . . . 81
PeterD.Turnpenny
6 SpondylothoracicDysostosisinPuertoRico . . . . . . . . . . . . . 109
AlbertoSantiagoCornier
7 Progress in Understanding Genetic Contributions in
SyndromicandNon-SyndromicDisordersAssociatedwith
Congenital,Neuromuscular,andIdiopathicScoliosis . . . . . . . . 127
PhilipF.Giampietro
8 GeneticsandFunctionalPathologyofIdiopathicScoliosis . . . . . 153
NancyH.Miller
9 CurrentUnderstandingofGeneticFactorsinIdiopathic
Scoliosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 167
CarolA.WiseandSwarkarSharma
10 Conclusion: Trends and Predictions for Genetic
andDevelopmentalBiologicalResearchonScoliosis . . . . . . . . 191
KenroKusumi
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 199
ix
Contributors
PeterG.Alexander,Ph.D. DepartmentofOrthopaedicSurgery,Centerfor
CellularandMolecularEngineering,UniversityofPittsburghSchoolofMedicine,
Pittsburgh,PA15219,USA,[email protected]
BenjaminAlman,M.D. HospitalforSickChildrenandUniversityofToronto,
Toronto,Ontario,[email protected]
AlbertoSantiagoCornier,M.D.,Ph.D. DepartmentofMolecularMedicine,
HospitaldelaConcepción,SanGermán,PuertoRico;PonceSchoolofMedicine,
Ponce,PuertoRico,[email protected]
WalterEckalbar SchoolofLifeSciences,ArizonaStateUniversity,Tempe,AZ
85287,[email protected]
RebeccaE.Fisher,Ph.D. DepartmentofBasicMedicalSciences,TheUniversity
ofArizonaCollegeofMedicine–PhoenixinpartnershipwithArizonaState
University,Phoenix,AZ85004,USA;SchoolofLifeSciences,ArizonaState
University,Tempe,AZ85287,USA,rfi[email protected]
PhilipF.Giampietro,M.D.,Ph.D. DepartmentofPediatrics,WaismanCenter,
TheUniversityofWisconsin-Madison,Madison,WI53705-9345,USA,
[email protected]
KenroKusumi,Ph.D. SchoolofLifeSciences,ArizonaStateUniversity,Tempe,
AZ85287,USA;DepartmentofBasicMedicalSciences,TheUniversityof
ArizonaCollegeofMedicine–PhoenixinpartnershipwithArizonaState
University,Phoenix,AZ85004,USA,[email protected]
NancyH.Miller,M.D. DepartmentofOrthopaedicSurgery,Musculoskeletal
ResearchCenter,TheChildren’sHospitalandUniversityofColoradoDenver,
Aurora,CO80045,USA,[email protected]
OlivierPourquié,Ph.D. DépartementdeBiologieCellulaireetDéveloppement,
InstitutdeGénétiqueetdeBiologieMoléculaireetCellulaire(IGBMC),Illkirch,
F-67400France;Inserm,U964,Illkirch,F-67400France;CNRS,UMR7104,
Illkirch,F-67400France;UniversitédeStrasbourg,Strasbourg,F-67000France,
[email protected]
xi
xii Contributors
AlanRawls,Ph.D. SchoolofLifeSciences,ArizonaStateUniversity,Tempe,AZ
85287,USA;DepartmentofBasicMedicalSciences,TheUniversityofArizona
CollegeofMedicine–PhoenixinpartnershipwithArizonaStateUniversity,
Phoenix,AZ85004,USA,[email protected]
SwarkarSharma,Ph.D. TexasScottishRiteHospitalforChildren,Dallas,TX
75219,USA,[email protected]
RockyS.Tuan,Ph.D. DepartmentofOrthopaedicSurgery,CenterforCellular
andMolecularEngineering,UniversityofPittsburghSchoolofMedicine,
Pittsburgh,PA15219,USA,[email protected]
PeterD.Turnpenny,M.B.Ch.B. ClinicalGeneticsDepartment,RoyalDevon&
ExeterHospitalandPeninsulaMedicalSchool,ExeterEX12ED,UK,
[email protected]
CarolA.Wise,Ph.D. TexasScottishRiteHospitalforChildren,Dallas,TX
75219,USA,[email protected]