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 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.
Giampietro
Philip F
PF
Department of Medical Genetic Services, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA. giampietro.philip@marshfieldclinic.org
Dunwoodie
Sally L
SL
Kusumi
Kenro
K
Pourquié
Olivier
O
Tassy
Olivier
O
Offiah
Amaka C
AC
Cornier
Alberto S
AS
Alman
Benjamin A
BA
Blank
Robert D
RD
Raggio
Cathleen L
CL
Glurich
Ingrid
I
Turnpenny
Peter D
PD
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*