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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 permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY10013,USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Usein connectionwithanyformofinformationstorageandretrieval,electronicadaptation,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdevelopedisforbidden. Theuseinthispublicationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyare notidentifiedassuch,isnottobetakenasanexpressionofopinionastowhetherornottheyaresubject toproprietaryrights. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) 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]

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The Genetics and Development of Scoliosisedited by Kenro Kusumi, Ph.D.Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, Ph
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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 permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY10013,USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Usein connectionwithanyformofinformationstorageandretrieval,electronicadaptation,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdevelopedisforbidden. Theuseinthispublicationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyare notidentifiedassuch,isnottobetakenasanexpressionofopinionastowhetherornottheyaresubject toproprietaryrights. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) 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]

Description:
The Genetics and Development of Scoliosisedited by Kenro Kusumi, Ph.D.Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, Ph
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