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Mutated MESP2 causes spondylocostal dysostosis in humans

Whittock, Neil V., Sparrow, Duncan B., Wouters, Merridee A., Sillence, David, Ellard, Sian, Dunwoodie, Sally L. and Turnpenny, Peter D. 2004, Mutated MESP2 causes spondylocostal dysostosis in humans, American journal of human genetics, vol. 74, no. 6, pp. 1249-1254, doi: 10.1086/421053.

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Title Mutated MESP2 causes spondylocostal dysostosis in humans
Author(s) Whittock, Neil V.
Sparrow, Duncan B.
Wouters, Merridee A.
Sillence, David
Ellard, Sian
Dunwoodie, Sally L.
Turnpenny, Peter D.
Journal name American journal of human genetics
Volume number 74
Issue number 6
Start page 1249
End page 1254
Total pages 6
Publisher Cell Press
Place of publication Cambridge, Mass.
Publication date 2004-06-01
ISSN 0002-9297
1537-6605
Keyword(s) delta like 3 protein
gene product
helix loop helix protein
ligand
Notch receptor
unclassified drug
Summary Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consistent and distinctive pattern of AVS affecting the entire spine. From our study cohort of cases of AVS, we have identified individuals and families with abnormal segmentation of the entire spine but no mutations in DLL3, and, in some of these, linkage to the DLL3 locus at 19q13.1 has been excluded. Within this group, the radiological phenotype differs mildly from that of DLL3 mutation–positive SCD and is variable, suggesting further heterogeneity. Using a genomewide scanning strategy in one consanguineous family with two affected children, we demonstrated linkage to 15q21.3-15q26.1 and furthermore identified a 4-bp duplication mutation in the human MESP2 gene that codes for a basic helix-loop-helix transcription factor. No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes.
Language eng
DOI 10.1086/421053
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
Socio Economic Objective 970106 Expanding Knowledge in the Biological Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2004, Elsevier
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30038988

Document type: Journal Article
Collections: School of Life and Environmental Sciences
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.