title: Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
abstract: Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and nonsyndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families.
authors.affiliation: Department of Medical Genetic Services, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA. giampietro.philip@marshfieldclinic.org
authors.forename: Philip F
authors.initials: PF
authors.lastname: Giampietro
authors.forename: Sally L
authors.initials: SL
authors.lastname: Dunwoodie
authors.forename: Kenro
authors.initials: K
authors.lastname: Kusumi
authors.forename: Olivier
authors.initials: O
authors.lastname: Pourquié
authors.forename: Olivier
authors.initials: O
authors.lastname: Tassy
authors.forename: Amaka C
authors.initials: AC
authors.lastname: Offiah
authors.forename: Alberto S
authors.initials: AS
authors.lastname: Cornier
authors.forename: Benjamin A
authors.initials: BA
authors.lastname: Alman
authors.forename: Robert D
authors.initials: RD
authors.lastname: Blank
authors.forename: Cathleen L
authors.initials: CL
authors.lastname: Raggio
authors.forename: Ingrid
authors.initials: I
authors.lastname: Glurich
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007738:Kyphosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D012600:Scoliosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D013122:Spinal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D013131:Spine / Q000002:abnormalities*