Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Tassabehji, May, Fang, Zhi Ming, Hilton, Emma N., McGaughran, Julie, Zhao, Zhongming, de Bock, Charles E., Howard, Emma, Malass, Michael, Donnai, Dian, Diwan, Ashish, Manson, Forbes D.C., Murrell, Dédée and Clarke, Raymond A. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation, 29 8: 1017-1027. doi:10.1002/humu.20741


Author Tassabehji, May
Fang, Zhi Ming
Hilton, Emma N.
McGaughran, Julie
Zhao, Zhongming
de Bock, Charles E.
Howard, Emma
Malass, Michael
Donnai, Dian
Diwan, Ashish
Manson, Forbes D.C.
Murrell, Dédée
Clarke, Raymond A.
Title Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
1098-1004
Publication date 2008-08-01
Sub-type Article (original research)
DOI 10.1002/humu.20741
Volume 29
Issue 8
Start page 1017
End page 1027
Total pages 11
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. GDF6 is expressed at the boundaries of the developing carpals, tarsals, and vertebrae and within the adult vertebral disc. GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.
Keyword Klippel-Feil
Kfs
Gdf6
Vertebral fusion
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Faculty of Health and Behavioural Sciences -- Publications
ERA 2012 Admin Only
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 71 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 82 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 11 Jan 2012, 21:05:49 EST by System User on behalf of Royal Brisbane Clinical School