Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

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 em...

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Bibliographic Details
Published in:Annals of the New York Academy of Sciences 2009-01, Vol.1151 (1), p.38-67
Main Authors: Giampietro, Philip F., Dunwoodie, Sally L., Kusumi, Kenro, Pourquié, Olivier, Tassy, Olivier, Offiah, Amaka C., Cornier, Alberto S., Alman, Benjamin A., Blank, Robert D., Raggio, Cathleen L., Glurich, Ingrid, Turnpenny, Peter D.
Format: Article
Language:English
Subjects:
Agagille syndrome
Animals
array-based CGH
CHARGE syndrome
CHD7
congenital scoliosis
congenital vertebral malformation
Disease Models, Animal
DLL3
DLL3, Wnt3A
Humans
ICVAS
JAG1
Jarcho−Levin syndrome
Klippel−Feil syndrome
Kyphosis - diagnosis
Kyphosis - etiology
Kyphosis - genetics
MESP2 LFNG
MESP2 LFNG, PAX1, JAG1, NOTCH2
NOTCH2
PAX1
Scoliosis - diagnosis
Scoliosis - etiology
Scoliosis - genetics
SLC35A3
Spinal Diseases - diagnosis
Spinal Diseases - etiology
Spinal Diseases - genetics
Spine - abnormalities
spondylothoracic dysostosis
T(Brachyury)
Tbx6
teratogens
VACTERL
Wnt3A
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Description
Summary: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.
ISSN:0077-8923
1749-6632
1930-6547
DOI:10.1111/j.1749-6632.2008.03452.x