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

被引：63

作者：

Giampietro, Philip F. ^{[1
]}

Dunwoodie, Sally L. ^{[2
]}

Kusumi, Kenro ^{[3
]}

Pourquie, Olivier ^{[4
,5
]}

Tassy, Olivier ^{[5
]}

Offiah, Amaka C. ^{[6
]}

Cornier, Alberto S. ^{[7
,8
]}

Alman, Benjamin A. ^{[9
,10
]}

Blank, Robert D. ^{[11
,12
]}

Raggio, Cathleen L. ^{[13
]}

Glurich, Ingrid ^{[14
]}

Turnpenny, Peter D. ^{[15
,16
]}

机构：

[1] Marshfield Clin Fdn Med Res & Educ, Dept Med Genet Serv, Marshfield, WI 54449 USA

[2] Univ New S Wales, Victor Chang Cardiac Res Inst, Darlinghurst, NSW, Australia

[3] Arizona State Univ, Sch Life Sci, Tempe, AZ USA

[4] Howard Hughes Med Inst, Kansas City, MO USA

[5] Stowers Inst Med Res, Kansas City, MO USA

[6] Great Ormond St Hosp Sick Children, Dept Radiol, London WC1N 3JH, England

[7] Ponce Sch Med, Dept Biochem, Div Genet, Ponce, PR USA

[8] La Concepcion Hosp, Dept Mol Med, San German, PR USA

[9] Univ Toronto, Hosp Sick Children, Div Orthopaed Surg, Toronto, ON M5G 1X8, Canada

[10] Univ Toronto, Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 1X8, Canada

[11] Univ Wisconsin, Dept Med, Sch Med & Publ Hlth, Madison, WI USA

[12] William S Middleton Mem Vet Adm Med Ctr, Ctr Geriatr Res Educ & Clin, Madison, WI 53705 USA

[13] Hosp Special Surg, Dept Pediat Orthoped, New York, NY 10021 USA

[14] Marshfield Clin Fdn Med Res & Educ, Marshfield, WI 54449 USA

[15] Royal Devon & Exeter Hosp, Exeter EX2 5DW, Devon, England

[16] Peninsula Med Sch, Exeter, Devon, England

来源：

YEAR IN HUMAN AND MEDICAL GENETICS 2009 | 2009年 / 1151卷

关键词：

congenital vertebral malformation; spondylothoracic dysostosis; Agagille syndrome; congenital scoliosis; Klippel-Feil syndrome; VACTERL; CHARGE syndrome; teratogens; Jarcho-Levin syndrome; ICVAS; array-based CGH; DLL3; Wnt3A; T(Brachyury); Tbx6; SLC35A3; MESP2; LFNG; PAX1; JAG1; NOTCH2; CHD7; JARCHO-LEVIN-SYNDROME; KLIPPEL-FEIL-SYNDROME; CAUSES SPONDYLOCOSTAL DYSOSTOSIS; NOTCH SIGNALING PATHWAY; NEURAL-TUBE DEFECTS; LUNATIC-FRINGE GENE; CANDIDATE GENE; HUMAN T; CONGENITAL SCOLIOSIS; ALAGILLE-SYNDROME;

D O I：

10.1111/j.1749-6632.2008.03452.x

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 non-syndromic 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.

引用

页码：38 / 67

页数：30

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