Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans

Philip F. Giampietro, Sally L. Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Amaka C. Offiah, Alberto S. Cornier, Benjamin A. Alman, Robert D. Blank, Cathleen L. Raggio, Ingrid Glurich, Peter D. Turnpenny

Research output: Contribution to journalArticlepeer-review

65 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)38-67
Number of pages30
JournalAnnals of the New York Academy of Sciences
StatePublished - Jan 2009


  • Agagille syndrome
  • Array-based CGH
  • CHARGE syndrome
  • Congenital scoliosis
  • Congenital vertebral malformation
  • DLL3, Wnt3A
  • Jarcho-Levin syndrome
  • Klippel-Feil syndrome
  • SLC35A3
  • Spondylothoracic dysostosis
  • T(Brachyury)
  • Tbx6
  • Teratogens

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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