How to cite this article: Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. 2006. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet Part A 140A:2631–2639.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
Article first published online: 12 JUL 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Thirteenth Annual Robert J. Gorlin Conference on Dysmorphology; Facial and Oral Structures: Molecular Perspectives
Volume 140A, Issue 23, pages 2631–2639, 1 December 2006
How to Cite
Wilkie, A. O.M., Bochukova, E. G., Hansen, R. M. S., Taylor, I. B., Rannan-Eliya, S. V., Byren, J. C., Wall, S. A., Ramos, L., Venâncio, M., Hurst, J. A., O'Rourke, A. W., Williams, L. J., Seller, A. and Lester, T. (2006), Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am. J. Med. Genet., 140A: 2631–2639. doi: 10.1002/ajmg.a.31366
- Issue published online: 21 NOV 2006
- Article first published online: 12 JUL 2006
- Manuscript Accepted: 20 MAY 2006
- Manuscript Received: 3 MAY 2006
- Wellcome Trust
A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for ∼25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations. © 2006 Wiley-Liss, Inc.