Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. Ann N Y Acad Sci 2009 Jan;1151:38-67
Date
01/22/2009Pubmed ID
19154516DOI
10.1111/j.1749-6632.2008.03452.xScopus ID
2-s2.0-58149153115 (requires institutional sign-in at Scopus site) 65 CitationsAbstract
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.
Author List
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PDMESH terms used to index this publication - Major topics in bold
AnimalsDisease Models, Animal
Humans
Kyphosis
Scoliosis
Spinal Diseases
Spine